Juvenile-Onset Kufs Disease in a Chinese Consanguineous Family due to CLN6 Mutation.

Jia, Weimin; Luo, Yalin; Wang, Jiuxiang; Yang, Yue; Yang, Wenming; Zhang, Xianqin

Jia, Weimin; Luo, Yalin; Wang, Jiuxiang; Yang, Yue; Yang, Wenming; Zhang, Xianqin.

Afiliación

Jia W; College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, China.
Luo Y; College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, China.
Wang J; Experimental Center of Clinical Research, The First Affiliated Hospital of Anhui University of Chinese Medicine, Hefei, China.
Yang Y; Department of Neurology, The First Affiliated Hospital of Anhui University of Chinese Medicine, Hefei, China.
Yang W; Department of Neurology, The First Affiliated Hospital of Anhui University of Chinese Medicine, Hefei, China.
Zhang X; College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, China.

Neurodegener Dis ; 21(5-6): 126-131, 2021.

Article en En | MEDLINE | ID: mdl-35609511

Palabras clave

CLN6; Kufs disease; Mutation; Whole-exome sequencing

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Neurodegener Dis Asunto de la revista: NEUROLOGIA Año: 2021 Tipo del documento: Article País de afiliación: China Pais de publicación: Suiza

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