Novel contributions to the Asian CFTR mutation spectrum: Genotype and phenotype in Thai patients with cystic fibrosis

Detection of five novel mutations of the

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)

✍ Geraldine Malone; Andrea Haworth; Martin J. Schwarz; Harry Cuppens; Maurice Supe 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 198 KB 👁 1 views

We analysed DNA samples from 26 Pakistani patients with cystic fibrosis (CF) living in the United Kingdom (14 from patients residing in the north west of England, who were referred directly to the North West Regional Molecular Genetics Laboratory, and 12 from other regional molecular genetics labora