Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient

ConclusionsThis study expanded the mutation spectrum of alterations of theBTD gene. Our patient also emphasized the critical role of biotinidase activity measurement combined with mutation analysis in early diagnosis of biotinidase deficiency.

Source: Molecular Genetics & Genomic Medicine - January 16, 2021 Category: Genetics & Stem Cells Authors: Jia Geng, Yi Sun, Yi Zhao, Wenyu Xiong, Mingjun Zhong, Yajuan Zhang, Qiuling Zhao, Zhongwei Bao, Jing Cheng, Yu Lu, Huijun Yuan Tags: ORIGINAL ARTICLE Source Type: research