KEGG   VARIANT: 5162v1
Entry
5162v1                      Variant                                
Name
PDHB deficiency
Type
Loss of function
Gene
PDHB  pyruvate dehydrogenase E1 subunit beta [KO:K00162]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 179060
Network
nt06031  Citrate cycle and pyruvate metabolism
Disease
H01998  Pyruvate dehydrogenase E1-beta deficiency
Reference
PMID:15138885
  Authors
Brown RM, Head RA, Boubriak II, Leonard JV, Thomas NH, Brown GK
  Title
Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency.
  Journal
Hum Genet 115:123-7 (2004)
DOI:10.1007/s00439-004-1124-8
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