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The p.Cys169Tyr variant of connexin 26 is not a polymorphism
Mutations in the GJB2 gene, which encodes the gap junction protein connexin 26 (Cx26), are the primary cause of hereditary prelingual hearing impairment. Here, the p.Cys169Tyr missense mutation of Cx26 (Cx26C169Y), previously classified as a polymorphism, has been identified as causative of severe h...
Enregistré dans:
| Publié dans: | Hum Mol Genet |
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| Auteurs principaux: | , , , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Oxford University Press
2015
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4383868/ https://ncbi.nlm.nih.gov/pubmed/25628337 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv026 |
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