A Novel Whole Gene Deletion of BCKDHB by Alu-Mediated Non-allelic Recombination in a Chinese Patient With Maple Syrup Urine Disease

A Novel Whole Gene Deletion of BCKDHB by Alu-Mediated Non-allelic Recombination in a Chinese Patient With Maple Syrup Urine Disease

Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. Among the wide range of disease-causing mutations in BCKDHB, only one large deletion has been associated with MSUD. Compound heterozygous mutations i...

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Bibliographic Details
Main Authors: Gang Liu, Dingyuan Ma, Ping Hu, Wen Wang, Chunyu Luo, Yan Wang, Yun Sun, Jingjing Zhang, Tao Jiang, Zhengfeng Xu
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-04-01
Series:Frontiers in Genetics
Subjects:
maple syrup urine disease
BCKDHB
dried blood spot
novel mutation
large deletion
Online Access:http://journal.frontiersin.org/article/10.3389/fgene.2018.00145/full

Internet

http://journal.frontiersin.org/article/10.3389/fgene.2018.00145/full

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