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
Identification of Eight Mutations and Three Sequence Variations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene
β Scribed by Nada Ghanem; Bruno Costes; Emmanuelle Girodon; Josiane Martin; Pascale Fanen; Michel Goossens
- Book ID
- 115612150
- Publisher
- Elsevier Science
- Year
- 1994
- Tongue
- English
- Weight
- 205 KB
- Volume
- 21
- Category
- Article
- ISSN
- 0888-7543
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Cystic fibrosis is the most common autosomal disorder in the Caucasian population. Since the description of the major mutation of this disease in 1989, over 150 of additional mutations have been identified in the CFTR gene. This update summarizes the different mutations identified and reported befor
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