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).

doi:10.1002/(SICI)1098-1004(1998)11:2<152::AID-HUMU8>3.0.CO;2-L

Article

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).

Human mutation - 1 Jan 1998

Malone G, Haworth A, Schwarz M J, Cuppens H, Super M

Abstract excerpt

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 lab...

Topics

Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
DNA Mutational Analysis
Genotype
Humans
Mutation
Polymorphism, Genetic
Sequence Analysis, DNA
United Kingdom
White People

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).

Abstract excerpt

Topics

Discuss the evidence