A novel compound heterozygous mutation in the GJB2 gene is associated with non-syndromic hearing loss in a Chinese family.

Jiang, Haiou; Niu, Youya; Qu, Lingfeng; Huang, Xueshuang; Zhu, Xinlong; Tang, Genyun

Jiang, Haiou; Niu, Youya; Qu, Lingfeng; Huang, Xueshuang; Zhu, Xinlong; Tang, Genyun.

Jiang H; Department of Cellular Biology and Genetics, Hunan Provincial Key Laboratory of Dong Medicine, Hunan University of Medicine.
Niu Y; Department of Cellular Biology and Genetics, Hunan Provincial Key Laboratory of Dong Medicine, Hunan University of Medicine.
Qu L; Department of Cellular Biology and Genetics, Hunan Provincial Key Laboratory of Dong Medicine, Hunan University of Medicine.
Huang X; Department of Cellular Biology and Genetics, Hunan Provincial Key Laboratory of Dong Medicine, Hunan University of Medicine.
Zhu X; Department of Cellular Biology and Genetics, Hunan Provincial Key Laboratory of Dong Medicine, Hunan University of Medicine.
Tang G; Department of Cellular Biology and Genetics, Hunan Provincial Key Laboratory of Dong Medicine, Hunan University of Medicine.

Biosci Trends ; 12(5): 470-475, 2018.

Article en En | MEDLINE | ID: mdl-30473554

Asunto(s)

Conexinas/genética; Sordera/genética; Mutación; Adulto; Niño; China; Conexina 26; Análisis Mutacional de ADN; Exoma; Salud de la Familia; Femenino; Asesoramiento Genético; Heterocigoto; Humanos; Masculino; Linaje; Análisis de Secuencia de ADN

Palabras clave

Exome sequencing; GJB2 gene; hearing loss; mutation

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Conexinas / Sordera / Mutación Tipo de estudio: Risk_factors_studies Límite: Adult / Child / Female / Humans / Male País como asunto: Asia Idioma: En Año: 2018 Tipo del documento: Article

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