Mutation Details for c.3874-4A>G

cDNA Name c.3874-4A>G 
Exon or Intron intron 23 
Legacy Exon or Intron intron 20 
Legacy Name 4006-4A->G 
Other Details The above mutation was found by DGGE with chemical clamps and identified by DNA sequencing. 
Contributors Chomel J C, Baudis M, Kitzis A   1996-01-19
Institute Laboratoire de Génétique Cellulaire et Moléculaire, CHU de Poitiers, France 
Submitted Phenotype Details The mutation was identified in a 13 years old female, diagnosed with CF at 3 years of age. The other mutation was not identified. (pers. corr. Kitzis) 
Reference Chomel et al. (NL#68) 

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The Database was last updated at Apr 25, 2011