Novel Mutations of the ALMS1 Gene in Patients with Alström Syndrome.

Wang, Chunmei; Luo, Xiaona; Wang, Yilin; Liu, Zhao; Wu, Shengnan; Wang, Simei; Lan, Xiaoping; Xu, Quanmei; Xu, Wuhen; Yuan, Fang; Wang, Anqi; Zeng, Fanyi; Jia, Jia; Chen, Yucai

Wang, Chunmei; Luo, Xiaona; Wang, Yilin; Liu, Zhao; Wu, Shengnan; Wang, Simei; Lan, Xiaoping; Xu, Quanmei; Xu, Wuhen; Yuan, Fang; Wang, Anqi; Zeng, Fanyi; Jia, Jia; Chen, Yucai.

Afiliación

Wang C; Department of Neurology, Children's Hospital of Shanghai, Shanghai JiaoTong University, China.
Luo X; Department of Neurology, Children's Hospital of Shanghai, Shanghai JiaoTong University, China.
Wang Y; Department of Neurology, Children's Hospital of Shanghai, Shanghai JiaoTong University, China.
Liu Z; Division of Pediatric Neurology, Department of Pediatrics, University of Illinois and Children's Hospital of Illinois, USA.
Wu S; Department of Neurology, Children's Hospital of Shanghai, Shanghai JiaoTong University, China.
Wang S; Department of Neurology, Children's Hospital of Shanghai, Shanghai JiaoTong University, China.
Lan X; Department of Neurology, Children's Hospital of Shanghai, Shanghai JiaoTong University, China.
Xu Q; Department of Neurology, Children's Hospital of Shanghai, Shanghai JiaoTong University, China.
Xu W; Department of Neurology, Children's Hospital of Shanghai, Shanghai JiaoTong University, China.
Yuan F; Department of Neurology, Children's Hospital of Shanghai, Shanghai JiaoTong University, China.
Wang A; Department of Neurology, Children's Hospital of Shanghai, Shanghai JiaoTong University, China.
Zeng F; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology & Shanghai Key Laboratory of Embryo and Reproduction Engineering, China.
Jia J; Fuxiang Gene Engineering Research Institute, China.
Chen Y; Department of Neurology, Children's Hospital of Shanghai, Shanghai JiaoTong University, China.

Intern Med ; 60(23): 3721-3728, 2021 Dec 01.

Article en En | MEDLINE | ID: mdl-34148947

Asunto(s)

Síndrome de Alstrom; Proteínas de Ciclo Celular; Diabetes Mellitus Tipo 2; Síndrome de Alstrom/diagnóstico; Síndrome de Alstrom/genética; Proteínas de Ciclo Celular/genética; Femenino; Humanos; Mutación; Linaje

Palabras clave

ALMS1; Alström syndrome; mutations; nonsense mutation

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas de Ciclo Celular / Diabetes Mellitus Tipo 2 / Síndrome de Alstrom Tipo de estudio: Diagnostic_studies Límite: Female / Humans Idioma: En Revista: Intern Med Asunto de la revista: MEDICINA INTERNA Año: 2021 Tipo del documento: Article País de afiliación: China Pais de publicación: Japón

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