KEGG   VARIANT: 5313v1
Entry
5313v1                      Variant                                
Name
PKLR deficiency
Type
Loss of function
Gene
PKLR  pyruvate kinase L/R [KO:K12406]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609712
Network
nt06031  Citrate cycle and pyruvate metabolism
Disease
H01096  Pyruvate kinase deficiency
Reference
PMID:9090535
  Authors
Beutler E, Westwood B, van Zwieten R, Roos D
  Title
G-->T transition at cDNA nt 110 (K37Q) in the PKLR (pyruvate kinase) gene is the molecular basis of a case of hereditary increase of red blood cell ATP.
  Journal
Hum Mutat 9:282-5 (1997)
DOI:10.1002/(SICI)1098-1004(1997)9:3<282::AID-HUMU13>3.0.CO;2-Z
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