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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.
Afiliación
  • 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 en En | MEDLINE | ID: mdl-30587147
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedad de Fabry / Hipertrofia Ventricular Izquierda / Alfa-Galactosidasa / Mutación con Pérdida de Función / Fallo Renal Crónico Tipo de estudio: Diagnostic_studies Límite: Adult / Aged / Child / Female / Humans / Male / Middle aged Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: China
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedad de Fabry / Hipertrofia Ventricular Izquierda / Alfa-Galactosidasa / Mutación con Pérdida de Función / Fallo Renal Crónico Tipo de estudio: Diagnostic_studies Límite: Adult / Aged / Child / Female / Humans / Male / Middle aged Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: China