KEGG   VARIANT: 3242v1
Entry
3242v1                      Variant                                
Name
HPD deficiency
Gene
HPD  4-hydroxyphenylpyruvate dioxygenase [KO:K00457]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609695
Network
nt06016  Phenylalanine and tyrosine metabolism
Disease
H00165  Tyrosinemia
Reference
  Authors
Ruetschi U, Cerone R, Perez-Cerda C, Schiaffino MC, Standing S, Ugarte M, Holme E
  Title
Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III.
  Journal
Hum Genet 106:654-62 (2000)
DOI:10.1007/s004390050039
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