Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease

Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease

Abstract Background Maple sirup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder. The disease‐causing mutations can affect the BCKDHA, BCKDHB, and DBT genes encoding for the E1α, E1β, and E2 subunits of the multienzyme branched‐chain α‐keto acid dehydrogenase (BCKDH) compl...

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Bibliographic Details
Main Authors: Thi T. N. Nguyen, Chi D. Vu, Ngoc L. Nguyen, Thi T. H. Nguyen, Ngoc K. Nguyen, Huy H. Nguyen
Format: Article
Language:English
Published: Wiley 2020-08-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
BCKD
BCKDHB
DBT
exome sequencing
maple sirup urine disease
Online Access:https://doi.org/10.1002/mgg3.1337

Internet

https://doi.org/10.1002/mgg3.1337

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