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...

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Udgivet i:Sci Rep
Main Authors: Dantas, Vitor G. L., Raval, Manmeet H., Ballesteros, Angela, Cui, Runjia, Gunther, Laura K., Yamamoto, Guilherme L., Alves, Leandro Ucela, Bueno, André Silva, Lezirovitz, Karina, Pirana, Sulene, Mendes, Beatriz C. A., Yengo, Christopher M., Kachar, Bechara, Mingroni-Netto, Regina C.
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2018
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Article
Online adgang: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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