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The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population

BACKGROUND: Congenital hearing loss (CHL) is diagnosed in 1 – 2 newborns in 1000, genetic factors contribute to two thirds of CHL cases in industrialised countries. Mutations of the GJB2 gene located in the DFNB1 locus (13q11-12) are a major cause of CHL worldwide. The aim of this cross-sectional st...

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Detalles Bibliográficos
Autores principales: Mikstiene, Violeta, Jakaitiene, Audrone, Byckova, Jekaterina, Gradauskiene, Egle, Preiksaitiene, Egle, Burnyte, Birute, Tumiene, Birute, Matuleviciene, Ausra, Ambrozaityte, Laima, Uktveryte, Ingrida, Domarkiene, Ingrida, Rancelis, Tautvydas, Cimbalistiene, Loreta, Lesinskas, Eugenijus, Kucinskas, Vaidutis, Utkus, Algirdas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4761217/
https://www.ncbi.nlm.nih.gov/pubmed/26896187
http://dx.doi.org/10.1186/s12863-016-0354-9