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A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss
Mutations in the GJB2 gene encoding connexin26 (CX26) account for up to 50% of cases of autosomal recessive hearing loss. In contrast, only one GJB2 mutation has been reported to date in an autosomal dominant form of isolated prelingual hearing loss. We report here a novel heterozygous 605G→T mutati...
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| Main Authors: | , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Group
2000
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1734593/ https://ncbi.nlm.nih.gov/pubmed/10807696 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.5.368 |
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