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BCKDHB gene

Known as: maple syrup urine disease, BCKDHB, BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, BETA POLYPEPTIDE 
National Institutes of Health

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3 relations
BCKDHA geneMaple Syrup Urine DiseaseTectum Mesencephali

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Clues and challenges in the diagnosis of intermittent maple syrup urine disease.
2020
2020
Genome-Wide Assessment of Runs of Homozygosity in Chinese Wagyu Beef Cattle
Simple Summary Runs of homozygosity (ROH) are continuous homozygous regions that generally exist in the DNA sequence of diploid… 
2018
2018
Four novel mutations of the BCKDHA, BCKDHB and DBT genes in Iranian patients with maple syrup urine disease
Abstract Background: Maple syrup urine disease (MSUD) is a rare metabolic autosomal recessive disorder caused by dysfunction of… 
2018
2018
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… 
2015
2015
Two novel compound heterozygous mutations in the BCKDHB gene that cause the intermittent form of maple syrup urine disease
Intermittent maple syrup urine disease (MSUD) is a potentially life-threatening metabolic disorder caused by a deficiency of… 
2012
2012
Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C‐termini of E1α and E1β
Maple Syrup Urine Disease is a rare metabolic disorder caused by reduced/absent activity of the branched chain α‐Ketoacid… 
2011
2011
Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene.
Maple syrup urine disease (MSUD) is a rare, autosomal recessive disorder of branched-chain amino acid (BCAA) metabolism caused by… 
2010
2010
Isolation, sequence identification, and tissue expression profile of 3 novel porcine genes:NCF2, BCKDHB andBCKDHA
The complete coding sequences of porcine genesNCF2, BCKDHB andBCKDHA were amplified by using reverse transcriptase polymerase… 
2010
2010
Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease
Mutations in any of the three different genes—BCKDHA, BCKDHB, and DBT—encoding for the E1α, E1β, and E2 catalytic components of… 
2007
2007
Description of the mutations in 15 subjects with variant forms of maple syrup urine disease
SummaryBackground:In maple syrup urine disease (MSUD), disease-causing mutations can affect the BCKDHA, BCKDHB or DBT genes… 
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