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

Volumn 11, Issue 2, 1998, Pages 152-157

  Malone, Geraldine ^a   Haworth, Andrea ^a   Schwarz, Martin J ^a   Cuppens, Harry ^b   Super, Maurice ^a  

^a ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^b UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CLINICAL ARTICLE; CYSTIC FIBROSIS; DNA SEQUENCE; GENE FREQUENCY; GENE MUTATION; GENETIC COUNSELING; GENETIC POLYMORPHISM; GENETIC SCREENING; HUMAN; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0031907747     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)11:2<152::AID-HUMU8>3.0.CO;2-L     Document Type: Article

References (17)

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