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Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia)

Hearing loss (HL) is one of the most common sensorineural disorders and several dozen genes contribute to its pathogenesis. Establishing a genetic diagnosis of HL is of great importance for clinical evaluation of deaf patients and for estimating recurrence risks for their families. Efforts to identi...

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Detalles Bibliográficos
Autores principales: Сhurbanov, Alexander Y., Karafet, Tatiana M., Morozov, Igor V., Mikhalskaia, Valeriia Yu., Zytsar, Marina V., Bondar, Alexander A., Posukh, Olga L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833413/
https://www.ncbi.nlm.nih.gov/pubmed/27082237
http://dx.doi.org/10.1371/journal.pone.0153841