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A novel compound heterozygous mutation in the GJB2 gene causing non-syndromic hearing loss in a family
Mutations in the GJB2 gene are responsible for up to 50% of cases of non-syndromic recessive hearing loss, with c.35delG, c.167delT and c.235delC being the predominant mutations in many world populations. However, a large number of rare mutations in this gene may also contribute to hearing loss. The...
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| Hauptverfasser: | , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
D.A. Spandidos
2014
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3896467/ https://ncbi.nlm.nih.gov/pubmed/24337325 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/ijmm.2013.1581 |
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