Cystic Fibrosis Mutation Database: Mutation Detail

Mutation Details for c.3909C>G

cDNA Name	c.3909C>G
Protein Name	p.Asn1303Lys
Exon or Intron	exon 24
Legacy Exon or Intron	exon 21
Legacy Name	N1303K
Other Details	The substitution was found in three adult British Caucasian patients all of whom are heterozygous for the mutation. Two of the patients are pancreatic sufficient with mild to moderate lung disease, and their other chromosomes carry an, as yet, uncharacterized mutation. In all patients the substitution appears to be associated with the haplotype 1,2,2 at XV-2C, KM19 and pMP6d-9 respectively. The third patient has the 551 mutation on the other chromosome, is pancreatic insufficient and died in respiratory failure at the age of 22.
Contributors	Osborne L, Santis G, Knight R, Hodson ME 1990-07-23
Institute	National Heart and Lung Institute London, England
Phenotype Information	CFTR2
Reference	Osborne et al. 1991

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Literature referencing this mutation. Sort by:
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

Correlation between genotype and phenotype in patients with cystic fibrosis. The Cystic Fibrosis Genotype-Phenotype Consortium. 1993 010 28;329(18):1308-13

Abeliovich D, Lavon IP, Lerer I, Cohen T, Springer C, Avital A, Cutting GR Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. 1992 011;51(5):951-6

Abeliovich D, Quint A, Weinberg N, Verchezon G, Lerer I, Ekstein J, Rubinstein E Cystic fibrosis heterozygote screening in the Orthodox Community of Ashkenazi Jews: the Dor Yesharim approach and heterozygote frequency. 1996;4(6):338-41

Angelicheva D, Calafell F, Savov A, Jordanova A, Kufardjieva A, Galeva I, Nedkova V, Ivanova T, Yankova P, Konstantinova D, Genev E, Kalaydjieva L Cystic fibrosis mutations and associated haplotypes in Bulgaria - a comparative population genetic study. 1997 004;99(4):513-20

Artlich A, Boysen A, Bunge S, Entzian P, Schlaak M, Schwinger E Common CFTR mutations are not likely to predispose to chronic bronchitis in northern Germany. 1995 002;95(2):226-8

Augarten A, Hacham S, Kerem E, Sheva Kerem B, Szeinberg A, Laufer J, Doolman R, Altshuler R, Blau H, Bentur L, et al The significance of sweat Cl/Na ratio in patients with borderline sweat test. 1995 012;20(6):369-71

Augarten A, Katznelson D, Dubenbaum L, Doolman R, Sela BA, Lusky A, Szeinberg A, Kerem BS, Paret G, Gazit E, Sack J, Yahav Y Serum lipase levels pre and post Lundh meal: evaluation of exocrine pancreatic status in cystic fibrosis. 1998;28(4):226-9

Augarten A, Shmilovich H, Doolman R, Aviram M, Akons H, Ben Tur L, Blau H, Kerem E, Rivlin J, Sela BA, Szeinberg A, Yahav Y Serum lipase levels as a diagnostic marker in cystic fibrosis patients with normal or borderline sweat tests. 2000 010;30(4):320-3

Axton RA, Brock DJ A single-tube multiplex system for the simultaneous detection of 10 common cystic fibrosis mutations. 1995;5(3):260-2

Bal J, Rininsland F, Osborne L, Reiss J Simple non-radioactive detection of the CFTR mutation N1303K by artificial creation of a restriction site. 1992 002;6(1):9-11

Bayleran JK, Yan H, Hopper CA, Simpson EM Frequencies of cystic fibrosis mutations in the Maine population: high proportion of unknown alleles in individuals of French-Canadian ancestry. 1996 008;98(2):207-9

Bernardino AL, Ferri A, Passos-Bueno MR, Kim CE, Nakaie CM, Gomes CE, Damaceno N, Zatz M Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations. 2000;4(1):69-74

Borrego S, Casals T, Dapena J, Fernandez E, Gimenez J, Cabeza JC, Sanchez J, Antinolo G Molecular and clinical analyses of cystic fibrosis in the south of Spain. 1994 010;46(4):287-90

Boucher D, Creveaux I, Grizard G, Jimenez C, Hermabessiere J, Dastugue B Screening for cystic fibrosis transmembrane conductance regulator gene mutations in men included in an intracytoplasmic sperm injection programme. 1999 006;5(6):587-93

Casals T, Gimenez J, Ramos MD, Nunes V, Estivill X Prenatal diagnosis of cystic fibrosis in a highly heterogeneous population. 1996 003;16(3):215-22

Castaldo G, Fuccio A, Cazeneuve C, Picci L, Salvatore D, Raia V, Scarpa M, Goossens M, Salvatore F Detection of five rare cystic fibrosis mutations peculiar to Southern Italy: implications in screening for the disease and phenotype characterization for patients with homozygote mutations. 1999 007;45(7):957-62

Castaldo G, Martinelli P, Massa C, Fuccio A, Grosso M, Rippa E, Paladini D, Salvatore F Prenatal diagnosis of cystic fibrosis: a case of twin pregnancy diagnosis and a review of 5 years' experience. 2000 008;298(1-2):121-33

Castaldo G, Rippa E, Sebastio G, Raia V, Ercolini P, de Ritis G, Salvatore D, Salvatore F Molecular epidemiology of cystic fibrosis mutations and haplotypes in southern Italy evaluated with an improved semiautomated robotic procedure. 1996 006;33(6):475-9

Castellani C, Bonizzato A, Cabrini G, Mastella G Newborn screening strategy for cystic fibrosis: a field study in an area with high allelic heterogeneity. 1997 005;86(5):497-502

Chastre E, Di Gioia Y, Barbry P, Simon-Bouy B, Mornet E, Fanen P, Champigny G, Emami S, Gespach C Functional insertion of the SV40 large T oncogene in cystic fibrosis intestinal epithelium. Characterization of CFI-3 cells. 1991 011 5;266(31):21239-46

Chehab FF, Wall J Detection of multiple cystic fibrosis mutations by reverse dot blot hybridization: a technology for carrier screening. 1992 005;89(2):163-8

Chertkoff L, Visich A, Bienvenu T, Grenoville M, Segal E, Carniglia L, Kaplan JC, Barreiro C Spectrum of CFTR mutations in Argentine cystic fibrosis patients. 1997 001;51(1):43-7

Chevalier-Porst F, Bonardot AM, Gilly R, Chazalette JP, Mathieu M, Bozon D Mutation analysis in 600 French cystic fibrosis patients. 1994 007;31(7):541-4

Chillon M, Casals T, Gimenez J, Nunes V, Estivill X Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4). 1994;3(3):223-30

Claustres M, Desgeorges M, Kjellberg P, Tissot C, Demaille J Analysis of 30 known cystic fibrosis mutations: 10 mutations account for 27% of non-delta F508 chromosomes in southern France. 1992 012;90(4):464-6

Claustres M, Desgeorges M, Moine P, Morral N, Estivill X CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France. 1996 009;98(3):336-44

Claustres M, Guittard C, Bozon D, Chevalier F, Verlingue C, Ferec C, Girodon E, Cazeneuve C, Bienvenu T, Lalau G, Dumur V, Feldmann D, Bieth E, Blayau M, Clavel C, Creveaux I, Malinge MC, Monnier N, Malzac P, Mittre H, Chomel JC, Bonnefont JP, Iron A, Chery M, Georges MD Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. 2000;16(2):143-56

Colombo C, Apostolo MG, Ferrari M, Seia M, Genoni S, Giunta A, Sereni LP Analysis of risk factors for the development of liver disease associated with cystic fibrosis. 1994 003;124(3):393-9

Cotellessa M, Mazzella M, Bruno C, Buzzanca C, Minicucci L, Gandino M, Romano L, Romano C N1303K mutation and diabetes mellitus in cystic fibrosis. 1996 012;75(6):546

Cotellessa M, Minicucci L, Diana MC, Prigione F, Di Febbraro L, Gagliardini R, Manca A, Battistini F, Taccetti G, Magazzu G, Padoan R, Pizzamiglio G, Raia V, Iapichino L, Cardella F, Grinzich G, Lucidi V, Tuccio G, Bignamini E, Salvatore D, Lorini R Phenotype/genotype correlation and cystic fibrosis related diabetes mellitus (Italian Multicenter Study). 2000 009-010;13(8):1087-93

Cucinotta D, De Luca F, Scoglio R, Lombardo F, Sferlazzas C, Di Benedetto A, Magazzu G, Raimondo G, Arrigo T Factors affecting diabetes mellitus onset in cystic fibrosis: evidence from a 10-year follow-up study. 1999 004;88(4):389-93

Cuppens H, Teng H, Raeymaekers P, De Boeck C, Cassiman JJ CFTR haplotype backgrounds on normal and mutant CFTR genes. 1994 004;3(4):607-14

Della Gaspera B, Weinman S, Huber C, Lemnaouar M, Paul A, Picard J, Gruenert DC Overexpression of annexin V in cystic fibrosis epithelial cells from fetal trachea. 1995 008;219(2):379-83

Delmarco A, Pradal U, Cabrini G, Bonizzato A, Mastella G Nasal potential difference in cystic fibrosis patients presenting borderline sweat test. 1997 005;10(5):1145-9

Dequeker E, Cassiman JJ Evaluation of CFTR gene mutation testing methods in 136 diagnostic laboratories: report of a large European external quality assessment. 1998 003-004;6(2):165-75

Desgeorges M, Megarbane A, Guittard C, Carles S, Loiselet J, Demaille J, Claustres M Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities. 1997 008;100(2):279-83

Dorval I, Jezequel P, Chauvel B, Dubourg C, Fergelot P, Le Gall JY, Roussey M, Blayau M French CF family genotype analysis shows that the R297Q mutation is a rare polymorphism. 1995;6(4):334-5

Endreffy E, Laszlo , Szabo A, Roman F, Kurti K, Kalman M, Rasko I Molecular genetic studies in monogenic and polygenic human diseases. 1997;48(1):121-8

Entzian P, Muller E, Boysen A, Artlich A, Schwinger E, Schlaak M Frequency of common cystic fibrosis gene mutations in chronic bronchitis patients. 1995 005;55(3):263-6

Estivill X, Bancells C, Ramos C Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium. 1997;10(2):135-54

Estivill X, Ortigosa L, Perez-Frias J, Dapena J, Ferrer J, Pena L, Pena L, Llevadot R, Gimenez J, Nunes V, et al Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial clinical differences. 1995 003;95(3):331-6

Federici S, Iron A, Reboul MP, Desgeorges M, Claustres M, Bremont F, Bieth E 2001 002;8(2):150-7

Fortina P, Conant R, Monokian G, Dotti G, Parrella T, Hitchcock W, Kant J, Scanlin T, Rappaport E, Schwartz E, et al Non-radioactive detection of the most common mutations in the cystic fibrosis transmembrane conductance regulator gene by multiplex allele-specific polymerase chain reaction. 1992 012;90(4):375-8

Gasparini P, Arbustini E, Restagno G, Zelante L, Stanziale P, Gatta L, Sbaiz L, Sedita AM, Banchieri N, Sapone L, Fiorucci GC, Brinson E, Shulse E, Rappaport E, Fortina P Analysis of 31 CFTR mutations by polymerase chain reaction/oligonucleotide ligation assay in a pilot screening of 4476 newborns for cystic fibrosis. 1999;6(2):67-9

Gasparini P, Bonizzato A, Dognini M, Pignatti PF Restriction site generating-polymerase chain reaction (RG-PCR) for the probeless detection of hidden genetic variation: application to the study of some common cystic fibrosis mutations. 1992 002;6(1):1-7

Gelfi C, Righetti PG, Magnani C, Cremonesi L, Ferrari M Simultaneous detection of delta F508, G542X, N1303K and 1717-1G-->A mutations in cystic fibrosis by capillary electrophoresis in polymer networks. 1994 009;229(1-2):181-9

Goldman A, Jenkins T, Ramsay M Analysis of 40 known cystic fibrosis mutations in South African patients. 1994 012;46(6):398-400

Grebe TA, Doane WW, Richter SF, Clericuzio C, Norman RA, Seltzer WK, Rhodes SN, Goldberg BE, Hernried LS, McClure M, et al Mutation analysis of the cystic fibrosis transmembrane regulator gene in Native American populations of the southwest. 1992 010;51(4):736-40

Grebe TA, Seltzer WK, DeMarchi J, Silva DK, Doane WW, Gozal D, Richter SF, Bowman CM, Norman RA, Rhodes SN, et al Genetic analysis of Hispanic individuals with cystic fibrosis. 1994 003;54(3):443-6

Guilloud-Bataille M, De Crozes D, Rault G, Degioanni A, Feingold J Cystic fibrosis mutations: report from the French Registry. The Clinical Centers of the CF. 2000 003-004;50(2):142-5

Heinonen P, Iitia A, Torresani T, Lovgren T Simple triple-label detection of seven cystic fibrosis mutations by time-resolved fluorometry. 1997 007;43(7):1142-50

Hughes D, Wallace A, Taylor J, Tassabehji M, McMahon R, Hill A, Nevin N, Graham C Fluorescent multiplex microsatellites used to define haplotypes associated with 75 CFTR mutations from the UK on 437 CF chromosomes. 1996;8(3):229-35

Kadasi L, Polakova H, Zatkova A, Kayserova H Distribution of 9 common mutations in the CFTR gene in Slovak cystic fibrosis patients. 1997 004;11(1):51-6

Kadasi L, Polakova H, Zatkova A, Kayserova H, Hruskovic I [The spectrum of mutations in the CFTR gene in patients with cystic fibrosis in Slovakia]. 1998 001;99(1):33-6

Kambouris M, Banjar H, Moggari I, Nazer H, Al-Hamed M, Meyer BF Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations. 2000 005;159(5):303-9

Kanavakis E, Tzetis M, Antoniadi T, Traeger-Synodinos J, Doudounakis S, Adam G, Matsaniotis N, Kattamis C Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74.5% of CF alleles including one novel mutation. 1995 009;96(3):364-6

Kerem B, Chiba-Falek O, Kerem E Cystic fibrosis in Jews: frequency and mutation distribution. 1997;1(1):35-9

Kostuch M, Semczuk A, Szarewicz-Adamczyk W, Gasowska-Giszczak U, Wojcierowski J, Kulczycki L Detection of CFTR gene mutations in patients suffering from chronic bronchitis. 2000 001-002;31(1):97-100

Laufer-Cahana A, Lerer I, Sagi M, Rachmilewitz-Minei T, Zamir C, Rivlin JR, Abeliovich D Cystic fibrosis mutations in Israeli Arab patients. 1999 012;14(6):543

Lemnaouar M, Chastre E, Paul A, Mergey M, Veissiere D, Cherqui G, Barbry P, Simon-Bouy B, Fanen P, Gespach C, et al Oncogene-mediated propagation of tracheal epithelial cells from two cystic fibrosis fetuses with different mutations. Characterization of CFT-1 and CFT-2 cells in culture. 1993 003;23(3):151-60

Lindner M, Wolf A, Moh B, Steinbach P, Kleihauer E, Bartram CR, Kulozik AE The spectrum of CFTR mutations in south-west German cystic fibrosis patients. 1992 011;90(3):267-9

Lucidi V, Novelli G, Castro M, Sangiuolo F, Papadatou B, Ferretti F, Orru M, Dallapiccola B [The correlation between the genotype and the clinical expression of cystic fibrosis]. 1992 009-010;14(5):513-5

Lucotte G, Hazout S Geographic and ethnic distributions of the more frequent cystic fibrosis mutations in Europe show that a founder effect is apparent for several mutant alleles. 1995 008;67(4):562-76

Mack DR, Traystman MD, Colombo JL, Sammut PH, Kaufman SS, Vanderhoof JA, Antonson DL, Markin RS, Shaw BW, Langnas AN Clinical denouement and mutation analysis of patients with cystic fibrosis undergoing liver transplantation for biliary cirrhosis. 1995 012;127(6):881-7

Marchand E, Verellen-Dumoulin C, Mairesse M, Delaunois L, Brancaleone P, Rahier JF, Vandenplas O Frequency of Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations and 5T Allele in Patients With Allergic Bronchopulmonary Aspergillosis. 2001 003;119(3):762-767

Mastella G, Rainisio M, Harms HK, Hodson ME, Koch C, Navarro J, Strandvik B, McKenzie SG Allergic bronchopulmonary aspergillosis in cystic fibrosis. A European epidemiological study. Epidemiologic Registry of Cystic Fibrosis. 2000 009;16(3):464-71

Mercier B, Lissens W, Audrezet MP, Bonduelle M, Liebaers I, Ferec C Detection of more than 94% cystic fibrosis mutations in a sample of Belgian population and identification of four novel mutations. 1993;2(1):16-20

Monaghan KG, Feldman GL, Barbarotto GM, Manji S, Desai TK, Snow K Frequency and clinical significance of the S1235R mutation in the cystic fibrosis transmembrane conductance regulator gene: results from a collaborative study. 2000 012 11;95(4):361-5

Morral N, Dork T, Llevadot R, Dziadek V, Mercier B, Ferec C, Costes B, Girodon E, Zielenski J, Tsui LC, Tummler B, Estivill X Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers. 1996;8(2):149-59

Morral N, Nunes V, Casals T, Chillon M, Gimenez J, Bertranpetit J, Estivill X Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers. 1993 007;2(7):1015-22

Muller F, Dommergues M, Simon-Bouy B, Ferec C, Oury JF, Aubry MC, Bessis R, Vuillard E, Denamur E, Bienvenu T, Serre JL Cystic fibrosis screening: a fetus with hyperechogenic bowel may be the index case. 1998 008;35(8):657-60

Nemeth K, Holics K, Ujhelyi R, Varadi A, Fekete G [Analysis of five mutations of cystic fibrosis occurring in the Hungarian population]. 1996 004 28;137(17):899-903

Nemeti M, Johnson JP, Papp Z, Louie E The occurrence of various non-delta F508 CFTR gene mutations among Hungarian cystic fibrosis patients. 1992 005;89(2):245-6

Ng IS, Pace R, Richard MV, Kobayashi K, Kerem B, Tsui LC, Beaudet AL Methods for analysis of multiple cystic fibrosis mutations. 1991 009;87(5):613-7

Nunes V, Gasparini P, Novelli G, Gaona A, Bonizzato A, Sangiuolo F, Balassopoulou A, Gimenez FJ, Dognini M, Ravnik-Glavac M, et al Analysis of 14 cystic fibrosis mutations in five south European populations. 1991 010;87(6):737-8

Ober C, Lester LA, Mott C, Billstrand C, Lemke A, van der Ven K, Marcus S, Kraut J, Lloyd-Still J, Booth C Ethnic heterogeneity and cystic fibrosis transmembrane regulator (CFTR) mutation frequencies in Chicago-area CF families. 1992 012;51(6):1344-8

Osborne L, Santis G, Schwarz M, Klinger K, Dork T, McIntosh I, Schwartz M, Nunes V, Macek M, Reiss J, et al Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene. 1992 008;89(6):653-8

Phillips OP, Bishop C, Woods D, Elias S Cystic fibrosis mutations among African Americans in the southeastern United States. 1995 006;87(6):433-5

Phillips OP, Elias S, Woods D, Hanissian AS, Schoumacher RA, Bishop C Cystic fibrosis mutations in white and black Americans: an approach to identification of unknown mutations with implications for cystic fibrosis screening. 1993 004;168(4):1076-82

Picard J, Lemnaouar M, Paul A [Cellular expression of CFTR in cystic fibrosis: defective cyclic AMP-dependent regulation of glycoconjugate secretion in cystic fibrosis fetal tracheal epithelial cells transfected by SV40 large T oncogene]. 1993 003;177(3):383-93; discussion 393-4

Potapova OYu , Voronina OV, Gaitskhoki VS, Bogacheva EV, Uembitskaya TE, Kuprina EA, Kapranov NI, Berlin YuA , Schwartz EI Identification of the linkage of mutations causing cystic fibrosis to different alleles of a tetranucleotide repeat in intron 6a of the CFTR gene. 1994 004;51(2):185-7

Raskin S, Phillips JA, Kaplan G, McClure M, Vnencak-Jones C Cystic fibrosis genotyping by direct PCR analysis of Guthrie blood spots. 1992 011;2(2):154-6

Raskin S, Phillips JA, Kaplan G, McClure M, Vnencak-Jones C, Rozov T, Cardieri JM, Marostica P, Abreu F, Giugliani R, Reis F, Rosario NA, Ludwig N, Pereira L, Faucz F, Gabardo J, Culpi L Geographic heterogeneity of 4 common worldwide cystic fibrosis non-DF508 mutations in Brazil. 1999 002;71(1):111-21

Rendine S, Calafell F, Cappello N, Gagliardini R, Caramia G, Rigillo N, Silvetti M, Zanda M, Miano A, Battistini F, Marianelli L, Taccetti G, Diana MC, Romano L, Romano C, Giunta A, Padoan R, Pianaroli A, Raia V, De Ritis G, Battistini A, Grzincich G, Japichino L, Pardo F, Piazza A, et al Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution. 1997 009;61 ( Pt 5):411-24

Restrepo CM, Pineda L, Rojas-Martinez A, Gutierrez CA, Morales A, Gomez Y, Villalobos MC, Borjas L, Delgado W, Myers A, Barrera-Saldana HA CFTR mutations in three Latin American countries. 2000 004 10;91(4):277-9

Rivlin J, Lerner A, Augarten A, Wilschanski M, Kerem E, Ephros MA Severe Clostridium difficile-associated colitis in young patients with cystic fibrosis. 1998 001;132(1):177-9

Russo MP, Romeo G, Devoto M, Barbujani G, Cabrini G, Giunta A, D'Alcamo E, Leoni G, Sangiuolo F, Magnani C, et al Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population. 1995;5(1):23-7

Sangiuolo F, Maceratesi P, Mesoraca A, Botta A, Cavicchini A, Novelli G, Dallapiccola B Simultaneous detection of delta F508, G542X, N1303K, G551D, and 1717-1G-->A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay. 1995;25(3):142-5

Sazonova MA, Amosenko FA, Kapranov NI, Kalinin VN [Molecular genetic analysis of TUB18 and TUB20 intragenic polymorphism and various mutations of the CFTR gene in the Moscow region]. 1997 009;33(9):1303-7

Schwarz MJ, Malone GM, Haworth A, Cheadle JP, Meredith AL, Gardner A, Sawyer IH, Connarty M, Dennis N, Seller A, et al Cystic fibrosis mutation analysis: report from 22 U.K. regional genetics laboratories. 1995;6(4):326-33

Semczuk M, Kostuch M, Krzyzanowski A, Kwasniewska A, Wojcierowski J [The detection of CFTR gene mutation in patients with azoospermia]. 1998 006;69(6):506-11

Sereth H, Shoshani T, Bashan N, Kerem BS Extended haplotype analysis of cystic fibrosis mutations and its implications for the selective advantage hypothesis. 1993 010 1;92(3):289-95

Shoshani T, Augarten A, Gazit E, Bashan N, Yahav Y, Rivlin Y, Tal A, Seret H, Yaar L, Kerem E, et al Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease. 1992 001;50(1):222-8

Tsai YH Cost-effective screening methods for various single gene defects in single cells using high magnesium and total ionic strength and restriction enzymes. 2000 012;20(12):979-85

Tummler B, Storrs T, Dziadek V, Dork T, Meitinger T, Golla A, Bertele-Harms RM, Harms HK, Schroder E, Claass A, Rutjes J, Schneppenheim R, Bauer I, Breuel K, Stuhrmann M, Schmidtke J, Lindner M, Eigel A, Horst J, Kaiser R, Lentze MJ, Schmidt K, von der Hardt H, Estivill X Geographic distribution and origin of CFTR mutations in Germany. 1996 006;97(6):727-31

Villalobos-Torres C, Rojas-Martinez A, Villareal-Castellanos E, Cantu JM, Sanchez-Anzaldo FJ, Saiki RK, Barrera-Saldana HA Analysis of 16 cystic fibrosis mutations in Mexican patients. 1997 004 14;69(4):380-2

Vouk K, Strmecki L, Liovic M, Kopriva S, Micetic-Turk D, Komel R Mutational analysis of 30 Slovenian cystic fibrosis patients compared to known Slovenian and European CF mutation spectra. 2000;439(3 Suppl):R63-5

Wang X, Moylan B, Leopold DA, Kim J, Rubenstein RC, Togias A, Proud D, Zeitlin PL, Cutting GR Mutation in the gene responsible for cystic fibrosis and predisposition to chronic rhinosinusitis in the general population. 2000 010 11;284(14):1814-9

Wine JJ, Kuo E, Hurlock G, Moss RB Comprehensive Mutation Screening in a Cystic Fibrosis Center. 2001 002;107(2):280-286

Yee K, Robinson C, Hurlock G, Moss RB, Wine JJ Novel Cystic Fibrosis mutation L1093P: functional analysis and possible Native American origin. 2000 002;15(2):208

Yilmaz E, Erdem H, Ozguc M, Coskun T, Ozcelik U, Gocmen A, Ozalp I Study of 12 mutations in Turkish cystic fibrosis patients. 1995 005-006;45(3):175-7

Zebrak J, Skuza B, Pogorzelski A, Ligarska R, Kopytko E, Pawlik J, Rutkiewicz E, Witt M Partial CFTR genotyping and characterisation of cystic fibrosis patients with myocardial fibrosis and necrosis. 2000 001;57(1):56-60

el-Harith EA, Dork T, Stuhrmann M, Abu-Srair H, al-Shahri A, Keller KM, Lentze MJ, Schmidtke J Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis. 1997 012;34(12):996-9

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The Database was last updated at Apr 25, 2011