SPECTRUM OF MUTATIONS IN CYSTIC-FIBROSIS

被引：19

作者：

CUTTING, GR ^{[1
]}

机构：

[1] JOHNS HOPKINS UNIV, SCH MED, CTR MED GENET, BALTIMORE, MD 21287 USA

来源：

JOURNAL OF BIOENERGETICS AND BIOMEMBRANES | 1993年 / 25卷 / 01期

关键词：

CFTR GENE; ETHNIC DISTRIBUTION; GENOTYPE PHENOTYPE;

D O I：

10.1007/BF00768062

中图分类号：

Q6 [生物物理学];

学科分类号：

071011 ;

摘要：

Cystic fibrosis (CF) is a disorder characterized by elevated sweat electrolytes and thick mucous secretions due to abnormal chloride permeability in epithelial tissues. The gene responsible for this disease, the CF transmembrane conductance regulator (CFTR) was identified by a positional cloning approach 3 years ago. Since that time, over two hundred mutations have been found in CFTR genes from affected individuals. Analysis of these disease-associated mutations has provided new insight into the etiology of this disease and into the mechanisms of epithelial electrolyte secretion.

引用

页码：7 / 10

页数：4