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Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss
Whole-exome sequencing of samples from affected members of two unrelated families with late-onset non-syndromic hearing loss revealed a novel mutation (c.2090 T > G; NM_017433) in MYO3A. The mutation was confirmed in 36 affected individuals, showing autosomal dominant inheritance. The mutation al...
Zapisane w:
| Wydane w: | Sci Rep |
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| Główni autorzy: | , , , , , , , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Nature Publishing Group UK
2018
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5992146/ https://ncbi.nlm.nih.gov/pubmed/29880844 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-26818-2 |
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