VARIANT: 3242v1
Help
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
PMID:
10942115
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
LinkDB
All DBs
DBGET
integrated database retrieval system