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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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| Publicado en: | Mol Genet Genomic Med |
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| Autores principales: | , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
John Wiley and Sons Inc.
2018
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| Materias: | |
| Acceso en línea: | 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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