Cystic fibrosis transmembrane conductance regulator mutations and polymorphisms associated with congenital bilateral absence of vas deferens in a restricted group of patients from North Africa-Reference-Cited by-同舟云学术

Cystic fibrosis transmembrane conductance regulator mutations and polymorphisms associated with congenital bilateral absence of vas deferens in a restricted group of patients from North Africa

Published:2011-12-08 Issue:1 Volume:39 Page:76-79
ISSN:0301-4460
Container-title:Annals of Human Biology
language:en
Short-container-title:Annals of Human Biology

Author:

Boudaya M.,Fredj S. Hadj,Haj R. Bel,Khrouf M.,Bouker A.,Halouani L.,Messaoud T.

Publisher

Informa UK Limited

Subject

Public Health, Environmental and Occupational Health,Genetics,Aging,Physiology,Epidemiology

Link

http://www.tandfonline.com/doi/pdf/10.3109/03014460.2011.642892

Reference23 articles.

1. Polyvariant Mutant Genes: different haplotypes determining different alterations causing azoospermia

2. Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens

3. Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens

4. Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations ?

5. Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

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