KEGG   VARIANT: 5860v1
Entry
5860v1                      Variant                                
Name
QDPR deficiency
Type
Loss of function
Gene
QDPR  quinoid dihydropteridine reductase [KO:K00357]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 612676
Network
nt06016  Phenylalanine and tyrosine metabolism
Disease
H00167  Phenylketonuria
Reference
PMID:8326489
  Authors
Dianzani I, Howells DW, Ponzone A, Saleeba JA, Smooker PM, Cotton RG
  Title
Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency.
  Journal
J Med Genet 30:465-9 (1993)
DOI:10.1136/jmg.30.6.465
LinkDB

DBGET integrated database retrieval system