Identification of novel mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene in the Greek population
β Scribed by M. Poulou; S. Doudounakis; E. Kanavakis; M. Tzetis
- Book ID
- 118642483
- Publisher
- Elsevier Science
- Year
- 2010
- Tongue
- English
- Weight
- 53 KB
- Volume
- 9
- Category
- Article
- ISSN
- 1569-1993
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Three mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene were discovered in a pancreas-insufficient patient with cystic fibrosis (CF) who displayed an uncommon combination of almost normal chloride concentration in sweat tests and typical symptoms of gastrointestinal an
Six new mutations have been identified in the CFTR gene. These mutations, representing three different categories-missense (R3 lL, W1098R), nonsense ( E l 104X), and frameshift (441delA, 681delC, 1461ins4)-are located in exons 2 , 4 , 5 , 9 , and 17b of the gene and presumed to cause cystic fibrosis