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Compound heterozygous mutations in CFTR causing CBAVD in Chinese pedigrees

BACKGROUND: Congenital bilateral absence of the vas deferens (CBAVD) is an important cause of obstructive azoospermia and male infertility. Mutations of CFTR caused the majority of CBAVD cases, and ADGRG2 was recently identified as a new pathogenic gene. Yet, most of the genetic evidence came from s...

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Detalles Bibliográficos
Autores principales:	Yang, Bin, Wang, Xi, Zhang, Wei, Li, Hongjun, Wang, Binbin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2018
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305631/ https://www.ncbi.nlm.nih.gov/pubmed/30450785 http://dx.doi.org/10.1002/mgg3.486

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