Identification of a novel GATA3 mutation in a deaf Taiwanese family by massively parallel sequencing.

Lin, Yin-Hung; Wu, Chen-Chi; Hsu, Tun-Yen; Chiu, Wei-Yih; Hsu, Chuan-Jen; Chen, Pei-Lung

Lin, Yin-Hung; Wu, Chen-Chi; Hsu, Tun-Yen; Chiu, Wei-Yih; Hsu, Chuan-Jen; Chen, Pei-Lung.

Afiliação

Lin YH; Department of Otolaryngology, National Taiwan University College of Medicine and Hospital, Taipei, Taiwan; Graduate Institute of Medical Genomics and Proteomics, National Taiwan University College of Medicine, Taipei, Taiwan.
Wu CC; Department of Otolaryngology, National Taiwan University College of Medicine and Hospital, Taipei, Taiwan; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
Hsu TY; Department of Otolaryngology, E-DA Hospital, I-Shou University, Kaohsiung, Taiwan.
Chiu WY; Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan.
Hsu CJ; Department of Otolaryngology, National Taiwan University College of Medicine and Hospital, Taipei, Taiwan; Department of Otolaryngology, Taichung Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Taiwan. Electronic address: cjhsu@ntu.edu.tw.
Chen PL; Graduate Institute of Medical Genomics and Proteomics, National Taiwan University College of Medicine, Taipei, Taiwan; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan. Electronic

Mutat Res ; 771: 1-5, 2015 Jan.

Article em En | MEDLINE | ID: mdl-25771973

Assuntos

Alelos; Fator de Transcrição GATA3/genética; Genoma Humano; Haploinsuficiência; Perda Auditiva Neurossensorial/genética; Heterozigoto; Hipoparatireoidismo/genética; Nefrose/genética; Adulto; Família; Feminino; Sequenciamento de Nucleotídeos em Larga Escala; Humanos; Masculino; Linhagem; Estabilidade de RNA/genética; RNA Mensageiro/genética; Taiwan

Palavras-chave

Deafness; Genetic diagnosis; HDR syndrome; Massively parallel sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genoma Humano / Alelos / Fator de Transcrição GATA3 / Haploinsuficiência / Perda Auditiva Neurossensorial / Heterozigoto / Hipoparatireoidismo / Nefrose Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Mutat Res Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Taiwan

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