Identification of a novel loss-of-function mutation of the GLA gene in a Chinese Han family with Fabry disease.

Zhou, Chi; Huang, Jin; Cui, Guanglin; Zeng, Hesong; Wang, Dao Wen; Zhou, Qiang

Zhou, Chi; Huang, Jin; Cui, Guanglin; Zeng, Hesong; Wang, Dao Wen; Zhou, Qiang.

Afiliação

Zhou C; Division of Cardiology, Department of Internal Medicine, Tongji Hospital, Tongji Medical College of Huazhong University of Science and Technology, Hubei Key Laboratory of Genetics and Molecular Mechanisms of Cardiological Disorders, Wuhan, 430030, China.
Huang J; Division of Hematology, Department of Internal Medicine, Tongji Hospital, Tongji Medical College of Huazhong University of Science and Technology, Wuhan, 430030, China.
Cui G; Division of Cardiology, Department of Internal Medicine, Tongji Hospital, Tongji Medical College of Huazhong University of Science and Technology, Hubei Key Laboratory of Genetics and Molecular Mechanisms of Cardiological Disorders, Wuhan, 430030, China. cuiguanglin@tjh.tjmu.edu.cn.
Zeng H; Division of Cardiology, Department of Internal Medicine, Tongji Hospital, Tongji Medical College of Huazhong University of Science and Technology, Hubei Key Laboratory of Genetics and Molecular Mechanisms of Cardiological Disorders, Wuhan, 430030, China.
Wang DW; Division of Cardiology, Department of Internal Medicine, Tongji Hospital, Tongji Medical College of Huazhong University of Science and Technology, Hubei Key Laboratory of Genetics and Molecular Mechanisms of Cardiological Disorders, Wuhan, 430030, China.
Zhou Q; Division of Cardiology, Department of Internal Medicine, Tongji Hospital, Tongji Medical College of Huazhong University of Science and Technology, Hubei Key Laboratory of Genetics and Molecular Mechanisms of Cardiological Disorders, Wuhan, 430030, China. thisiszhou@163.com.

BMC Med Genet ; 19(1): 219, 2018 12 27.

Article em En | MEDLINE | ID: mdl-30587147

Assuntos

Doença de Fabry/genética; Hipertrofia Ventricular Esquerda/genética; Falência Renal Crônica/genética; Mutação com Perda de Função; alfa-Galactosidase/genética; 1-Desoxinojirimicina/análogos & derivados; 1-Desoxinojirimicina/farmacologia; Adulto; Idoso; Povo Asiático; Sequência de Bases; Criança; Éxons; Doença de Fabry/enzimologia; Doença de Fabry/etnologia; Doença de Fabry/fisiopatologia; Feminino; Expressão Gênica; Glicolipídeos/antagonistas & inibidores; Glicolipídeos/biossíntese; Células HEK293; Humanos; Hipertrofia Ventricular Esquerda/enzimologia; Hipertrofia Ventricular Esquerda/etnologia; Hipertrofia Ventricular Esquerda/fisiopatologia; Falência Renal Crônica/enzimologia; Falência Renal Crônica/etnologia; Falência Renal Crônica/fisiopatologia; Masculino; Pessoa de Meia-Idade; Linhagem; Fenótipo; alfa-Galactosidase/metabolismo

Palavras-chave

DGJ; Fabry disease; Genetics; α-Gal a

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Limite: Adult / Aged / Child / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2018 Tipo de documento: Article

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