Large genomic rearrangements in the CFTR gene contribute to CBAVD

BACKGROUND: By performing extensive scanning of whole coding and flanking sequences of the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene, we had previously identified point mutations in 167 out of 182 (91.7%) males with isolated congenital bilateral absence of the vas deferens (CBA...

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Detalhes bibliográficos
Main Authors: Taulan, Magali, Girardet, Anne, Guittard, Caroline, Altieri, Jean-Pierre, Templin, Carine, Beroud, Christophe, des Georges, Marie, Claustres, Mireille
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2007
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1876208/
https://ncbi.nlm.nih.gov/pubmed/17448246
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-8-22
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