Mutation Details for c.4136+2t>G

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.4136+2t>G 
Exon or Intron  
Other Details This mutation was detected by DHPLC and confirmed by sequencing reaction 
Contributors and Institutes
HADJ FREDJ Sondess and MESSAOUD Taieb- Laboratoire de Biochimie et de Biologie moléculaire- Hôpital d’Enfants de Tunis- Tunisie -
Submitted Phenotype Details This mutation was found in homozygous state in a 3 year-old girl with obstructive lung disease, pancreatic insufficiency and positive sweat test (141mM) 

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The Database was last updated at Apr 25, 2011