Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships-Reference-Cited by-同舟云学术

Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships

Published:2008-11 Issue:11 Volume:29 Page:1364-1372
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Krasnov Kristina V.,Tzetis Maria,Cheng Jie,Guggino William B.,Cutting Garry R.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference44 articles.

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3. Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected;Casals;Hum Genet,1995

4. Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens;Casals;Hum Reprod,2000

5. Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis;Cheng;Cell,1990

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