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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Publicat a:Sci Rep
Autors principals: 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
Idioma:Inglês
Publicat: Nature Publishing Group UK 2018
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Article
Accés en línia: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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