rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.810
GeneticVariation
UNIPROT
Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric alleles.
9792407
1998
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.810
GeneticVariation
UNIPROT
Mutation analysis of the phenylalanine hydroxylase gene and its clinical implications in two Japanese patients with non-phenylketonuria hyperphenylalaninemia.
9852673
1998
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
C
0.810
CausalMutation
CLINVAR
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.
9634518
1998
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.810
GeneticVariation
UNIPROT
Identification of three novel mutations in Korean phenylketonuria patients: R53H, N207D, and Y325X.
9452061
1998
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
C
0.810
CausalMutation
CLINVAR
Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia.
9521426
1998
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.810
GeneticVariation
UNIPROT
Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia.
9521426
1998
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.810
GeneticVariation
UNIPROT
Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populations.
9101291
1997
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.810
GeneticVariation
UNIPROT
Two novel PAH gene mutations detected in Italian phenylketonuric patients.
9048935
1997
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
C
0.810
CausalMutation
CLINVAR
Mutations of the phenylalanine hydroxylase gene in mild hyperphenylalaninemia: a novel mutation in exon 3.
9298832
1997
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.810
GeneticVariation
UNIPROT
Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations.
8889590
1996
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.810
GeneticVariation
UNIPROT
Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients.
8088845
1994
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.810
GeneticVariation
UNIPROT
Identification of a new missense mutation in Japanese phenylketonuric patients.
8068076
1993
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.810
GeneticVariation
UNIPROT
Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria.
8098245
1993
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.810
GeneticVariation
UNIPROT
Molecular basis for nonphenylketonuria hyperphenylalaninemia.
1358789
1992
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.810
GeneticVariation
UNIPROT
A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria.
1363837
1992
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.810
GeneticVariation
UNIPROT
A new PKU mutation associated with haplotype 12.
1363838
1992
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.810
GeneticVariation
UNIPROT
Identification of a missense phenylketonuria mutation at codon 408 in Chinese.
1355066
1992
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.810
GeneticVariation
UNIPROT
Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria.
1672290
1991
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.810
GeneticVariation
UNIPROT
Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation.
1671810
1991
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.810
GeneticVariation
UNIPROT
Phenylketonuria missense mutations in the Mediterranean.
1672294
1991
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
C
0.810
GeneticVariation
CLINVAR