Cargando…
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...
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 |
Ejemplares similares
-
Different Rates of the SLC26A4-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia)
por: Danilchenko, Valeriia Yu., et al.
Publicado: (2021) -
Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia)
por: Danilchenko, Valeriia Yu., et al.
Publicado: (2023) -
High Rates of Three Common GJB2 Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect
por: Zytsar, Marina V., et al.
Publicado: (2020) -
Updated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia
por: Zytsar, Marina V., et al.
Publicado: (2018) -
Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss
por: Danilchenko, Valeriia Yu., et al.
Publicado: (2022)