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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Detalles Bibliográficos
Autores principales: Liu, Gang, Ma, Dingyuan, Hu, Ping, Wang, Wen, Luo, Chunyu, Wang, Yan, Sun, Yun, Zhang, Jingjing, Jiang, Tao, Xu, Zhengfeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5928131/
https://www.ncbi.nlm.nih.gov/pubmed/29740478
http://dx.doi.org/10.3389/fgene.2018.00145

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