Severe cystic fibrosis associated with a AF508/R347H + D979A compound heterozygous genotype-Reference-Cited by-同舟云学术

Severe cystic fibrosis associated with a AF508/R347H + D979A compound heterozygous genotype

Published:2008-06-28 Issue:1 Volume:53 Page:50-53
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Hojo Satoko,Fujita Jiro,Miyawaki Hiroshi,Obayashi Yuka,Takahara Jiro,Bartholomew Dennis W.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1998.tb02581.x/fullpdf

Reference12 articles.

1. Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes;Cremonesi;Hum Mutat,1992

2. Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deferens;Osborne;Hum Mol Genet,1993

3. Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes;Chillón;Hum Genet,1994

4. Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 Patients;Mercier;Am J Hum Genet,1995

5. Mild CF in a AF508/R347H compound heterozygote woman: does the manifestation of this genotype differ in the two sexes;Kosztolanyi;Clin Genet,1996

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