Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C).

Autor: Malone, Geraldine, Haworth, Andrea, Schwarz, Martin J., Cuppens, Harry, Super, Maurice
Zdroj: Human Mutation; 1998, Vol. 11 Issue 2, p152-157, 6p
Databáze: Complementary Index