[Spectrum of GJB6 variants in 318 pedigrees with non-syndromic hearing loss:one deafness pedigree carrying both GJB6 and GJB2 deletion variant].

Zheng, B J; Zhang, T; Wang, H; Tang, X W; Zheng, J; Lv, J X; Guan, M X

[Spectrum of GJB6 variants in 318 pedigrees with non-syndromic hearing loss:one deafness pedigree carrying both GJB6 and GJB2 deletion variant].

Zheng, B J; Zhang, T; Wang, H; Tang, X W; Zheng, J; Lv, J X; Guan, M X.

Afiliação

Zheng BJ; Attardi Institute of Mitochondrial Biomedicine and Zhejiang Provincial Key Laboratory of Medical Genetics,Wenzhou Medical University,Wenzhou,Zhejiang,325035,China.
Zhang T; Department of Clinical Medicine Center,the First People's Hospital of Wenling.
Wang H; Attardi Institute of Mitochondrial Biomedicine and Zhejiang Provincial Key Laboratory of Medical Genetics,Wenzhou Medical University,Wenzhou,Zhejiang,325035,China.
Tang XW; Attardi Institute of Mitochondrial Biomedicine and Zhejiang Provincial Key Laboratory of Medical Genetics,Wenzhou Medical University,Wenzhou,Zhejiang,325035,China.
Zheng J; Department of Genetics,College of Life Sciences,Zhejiang University.
Lv JX; Zhejiang Provincial Key Laboratory of Medical Genetics.
Guan MX; Attardi Institute of Mitochondrial Biomedicine and Zhejiang Provincial Key Laboratory of Medical Genetics,Wenzhou Medical University,Wenzhou,Zhejiang,325035,China.

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi ; 30(12): 933-937, 2016 Jun 20.

Article em Zh | MEDLINE | ID: mdl-29771057

Assuntos

Conexina 30/genética; Análise Mutacional de DNA; Perda Auditiva/genética; Mutação; Povo Asiático/genética; Conexina 26; Conexinas/genética; Surdez/genética; Éxons; Feminino; Deleção de Genes; Genótipo; Heterozigoto; Humanos; Masculino; Linhagem; Reação em Cadeia da Polimerase

Palavras-chave

deafness; deletionmutation; gap junction; gap junction bata 6

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Análise Mutacional de DNA / Conexina 30 / Perda Auditiva / Mutação Limite: Female / Humans / Male Idioma: Zh Revista: Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi Ano de publicação: 2016 Tipo de documento: Article

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