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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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| 發表在: | Mol Genet Genomic Med |
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| Main Authors: | , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
John Wiley and Sons Inc.
2018
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| 主題: | |
| 在線閱讀: | 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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