KEGG   VARIANT: 1629v1
Entry
1629v1                      Variant                                
Name
DBT deficiency
Gene
DBT  dihydrolipoamide branched chain transacylase E2 [KO:K09699]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605862
Network
nt06024  Valine, leucine and isoleucine degradation
Disease
H00172  Maple syrup urine disease
Reference
PMID:9621512
  Authors
Tsuruta M, Mitsubuchi H, Mardy S, Miura Y, Hayashida Y, Kinugasa A, Ishitsu T, Matsuda I, Indo Y
  Title
Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.
  Journal
J Hum Genet 43:91-100 (1998)
DOI:10.1007/s100380050047
LinkDB

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