Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China-Reference-Cited by-全球学者库

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

Author:

Liu Zongcai¹^ORCID,Zhao Xiaoyuan¹,Sheng Huiying¹,Cai Yanna¹,Yin Xi¹,Chen Xiaodan¹,Su Ling¹,Lu Zhikun¹,Zeng Chunhua²,Li Xiuzhen²,Liu Li²

Affiliation:

1. The Laboratory of Endocrinology and Metabolism; Guangzhou Women and Children's Medical Center; Guangzhou Medical University; Guangzhou P.R. China

2. Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center; Guangzhou Medical University; Guangzhou P.R. China

Funder

Guangzhou Women and Children's Medical Center/Guangzhou Institute of Pediatrics

National Natural Science Foundation of China

Department of Science and Technology of Guangdong Province

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference33 articles.

1. Human serum biotinidase. cDNA cloning, sequence, and characterization;Cole;Journal of Biological Chemistry,1994

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