A New Missense Mutation G126D in Exon 4 of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene
作者:
Klaus Wagner,
Ignaz Greil,
Petra Schneditz,
Walter Rosenkranz,
期刊:
Human Heredity
(Karger Available online 1994)
卷期:
Volume 44,
issue 1
页码: 56-57
ISSN:0001-5652
年代: 1994
DOI:10.1159/000154190
出版商: S. Karger AG
关键词: CFTR gene;Exon 4;Missense mutation
数据来源: Karger
摘要:
Cystic fibrosis (CF) is the most common severe autosomal recessive disorder in the Caucasian population. Beside the major mutation ΔF508, which accounts for approximately 68% of all CF chromosomes, more than 350 different point mutations leading to this disease have been detected and communicated to the ‘Cystic Fibrosis Genetic Analysis Consortium’. As these mutation are scattered about the whole CFTR gene we used denaturing gradient gel electrophoresis as a rapid method for screening a large number of CF patients for point mutations in the CFTR e
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