KEGG   VARIANT: 5805v1
Entry
5805v1                      Variant                                
Name
PTS deficiency
Type
Loss of function
Gene
PTS  6-pyruvoyltetrahydropterin synthase [KO:K01737]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 612719
Network
nt06016  Phenylalanine and tyrosine metabolism
Disease
H00167  Phenylketonuria
Reference
PMID:8178819
  Authors
Thony B, Leimbacher W, Blau N, Harvie A, Heizmann CW
  Title
Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase.
  Journal
Am J Hum Genet 54:782-92 (1994)
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