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A novel dominant GJB2 (DFNA3) mutation in a Chinese family
To decipher the phenotype and genotype of a Chinese family with autosomal dominant non-syndromic hearing loss (ADNSHL) and a novel dominant missense mutation in the GJB2 gene (DFNA3), mutation screening of GJB2 was performed on the propositus from a five-generation ADNSHL family through polymerase c...
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| Publicado no: | Sci Rep |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5244381/ https://ncbi.nlm.nih.gov/pubmed/28102197 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep34425 |
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