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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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Dades bibliogràfiques
Publicat a:Mol Genet Genomic Med
Autors principals: Yang, Bin, Wang, Xi, Zhang, Wei, Li, Hongjun, Wang, Binbin
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2018
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6305631/
https://ncbi.nlm.nih.gov/pubmed/30450785
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.486
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