rs62508646
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
G
0.820
CausalMutation
CLINVAR
Mutation detection in phenylketonuria by using chemical cleavage of mismatch: importance of using probes from both normal and patient samples.
2063869
1991
rs62508646
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.820
GeneticVariation
UNIPROT
Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria.
1672290
1991
rs62508646
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.820
GeneticVariation
UNIPROT
Phenylketonuria missense mutations in the Mediterranean.
1672294
1991
rs62508646
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.820
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
rs62508646
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.820
GeneticVariation
UNIPROT
A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria.
1363837
1992
rs62508646
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.820
GeneticVariation
UNIPROT
A new PKU mutation associated with haplotype 12.
1363838
1992
rs62508646
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
G
0.820
CausalMutation
CLINVAR
Five mutations at the PAH locus account for almost 90% of PKU mutations in French-Canadians from eastern Quebec.
1301193
1992
rs62508646
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
G
0.820
GeneticVariation
CLINVAR
Five mutations at the PAH locus account for almost 90% of PKU mutations in French-Canadians from eastern Quebec.
1301193
1992
rs62508646
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.820
GeneticVariation
UNIPROT
Identification of a missense phenylketonuria mutation at codon 408 in Chinese.
1355066
1992
rs62508646
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.820
GeneticVariation
UNIPROT
Identification of a new missense mutation in Japanese phenylketonuric patients.
8068076
1993
rs62508646
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.820
GeneticVariation
BEFREE
A missense mutation, S349P , completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria .
8095248
1993
rs62508646
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
G
0.820
CausalMutation
CLINVAR
A missense mutation, S349P , completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria .
8095248
1993
rs62508646
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
G
0.820
CausalMutation
CLINVAR
Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe.
8268925
1993
rs62508646
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
G
0.820
GeneticVariation
CLINVAR
A missense mutation, S349P , completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria .
8095248
1993
rs62508646
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.820
GeneticVariation
BEFREE
The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme.
7860062
1995
rs62508646
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
G
0.820
CausalMutation
CLINVAR
The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme.
7860062
1995
rs62508646
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
G
0.820
CausalMutation
CLINVAR
Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study.
8659548
1996
rs62508646
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
G
0.820
CausalMutation
CLINVAR
PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population.
8830172
1996
rs62508646
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.820
GeneticVariation
UNIPROT
Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations.
8889590
1996
rs62508646
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.820
GeneticVariation
UNIPROT
Two novel PAH gene mutations detected in Italian phenylketonuric patients.
9048935
1997
rs62508646
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.820
GeneticVariation
UNIPROT
Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populations.
9101291
1997
rs62508646
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
G
0.820
CausalMutation
CLINVAR
Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.
9399896
1997
rs62508646
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.820
GeneticVariation
UNIPROT
Identification of seven new mutations in the phenylalanine hydroxylase gene, associated with hyperphenylalaninemia in the Belgian population.
9452062
1998
rs62508646
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
G
0.820
CausalMutation
CLINVAR
Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience.
9781015
1998
rs62508646
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.820
GeneticVariation
UNIPROT
Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene (PAH).
9792411
1998