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Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD.

Congenital bilateral absence of the vas deferens (CBAVD) is a cause of male sterility mostly resulting from mutations in the cystic fibrosis transmembrane regulator (CFTR) gene. The most common defect is the 5T variant at the branch/acceptor site of intron 8, which induces high levels of exon 9 skip...

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Detalhes bibliográficos
Main Authors: de Meeus, A, Guittard, C, Desgeorges, M, Carles, S, Demaille, J, Claustres, M
Formato: Artigo
Idioma:Inglês
Publicado em: 1998
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051371/
https://ncbi.nlm.nih.gov/pubmed/9678705
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