Mutation Details for c.393delT

cDNA Name c.393delT 
Protein Name p.Phe131LeufsX3 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name 525delT 
Other Details We would like to report the new mutation (525 del T) detected in one Yugoslav CF family. The mutation was detected in a CF patient (N1303K/525delT) and in the mother of the affected child (525 del T/N). The methods applied for detecting and defining the 525delT mutation were: DGGE of exon 4 of CFTR gene and subsequent automatic sequencing. 
Contributors Radojkovic D, Kusic J, Cuppens H, Jaspers M   1998-05-06
Institute Institute of Molecular Genetics and Genetic Engineering Belgrade, Yugoslavia Center for Human Genetics Leuven, Belgium 
Submitted Phenotype Details The mutation was found in a CF female patient. She was admitted to hospital at the age of two months, due to frequent bulky stools and hipotrophy. Sweat test was 119umol/L. From the age of 3yr, pulmonary symptoms are dominant. Chronical colonisation with P. Aeruginosa from the age of 9yr. Presently (age 16) in a good condition. (Updated on November 4,2008)  
Reference Radojkovic et al. (NL#70) 

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The Database was last updated at Apr 25, 2011