首页> American journal of medical genetics. Part A> Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China.

Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China.

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第一作者： Zongcai,Liu

第一单位： The Laboratory of Endocrinology and Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, P.R. China.

作者： Zongcai,Liu ^[1] ; Xiaoyuan,Zhao ^[1] ; Huiying,Sheng ^[1] ; Yanna,Cai ^[1] ; Xi,Yin ^[1] ; Xiaodan,Chen ^[1] ; Ling,Su ^[1] ; Zhikun,Lu ^[1] ; Chunhua,Zeng ^[2] ; Xiuzhen,Li ^[2] ; Li,Liu ^[2]

作者单位： The Laboratory of Endocrinology and Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, P.R. China. ^[1] Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, P.R. China. ^[2]

关键词 biotinidase deficiency clinical features definitive diagnosis functional study gene mutations