rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
C
0.810
CausalMutation
CLINVAR
White matter microstructural damage in early treated phenylketonuric patients.
30367646
2018
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
C
0.810
CausalMutation
CLINVAR
Psychiatric disorders in adolescent and young adult patients with phenylketonuria.
26655635
2016
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
C
0.810
CausalMutation
CLINVAR
Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.
27121329
2016
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
C
0.810
CausalMutation
CLINVAR
Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population.
23932990
2013
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.810
GeneticVariation
UNIPROT
Mutation analysis in hyperphenylalaninemia patients from South Italy.
23792259
2013
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
C
0.810
CausalMutation
CLINVAR
Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness.
24350308
2013
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
C
0.810
CausalMutation
CLINVAR
Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?
23430918
2012
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.810
GeneticVariation
UNIPROT
Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene.
22513348
2012
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
C
0.810
CausalMutation
CLINVAR
To elucidate the molecular basis of functional impairment in PAH deficiency , we investigated the impact of ten PAH gene mutations identified in patients with BH(4)-responsiveness on enzyme kinetics, stability, and conformation of the protein (F55L , I65S, H170Q, P275L, A300S, S310Y, P314S, R408W, Y414C, Y417H).
18538294
2008
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.810
GeneticVariation
UNIPROT
To elucidate the molecular basis of functional impairment in PAH deficiency , we investigated the impact of ten PAH gene mutations identified in patients with BH(4)-responsiveness on enzyme kinetics, stability, and conformation of the protein (F55L , I65S, H170Q, P275L, A300S, S310Y, P314S, R408W, Y414C, Y417H).
18538294
2008
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
C
0.810
CausalMutation
CLINVAR
Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene.
18299955
2008
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.810
GeneticVariation
BEFREE
To elucidate the molecular basis of functional impairment in PAH deficiency , we investigated the impact of ten PAH gene mutations identified in patients with BH(4)-responsiveness on enzyme kinetics, stability, and conformation of the protein (F55L , I65S, H170Q, P275L, A300S, S310Y, P314S, R408W, Y414C, Y417H).
18538294
2008
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
C
0.810
CausalMutation
CLINVAR
Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.
17924342
2007
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
C
0.810
CausalMutation
CLINVAR
Mutational spectrum in German patients with phenylalanine hydroxylase deficiency.
12655553
2003
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.810
GeneticVariation
UNIPROT
Identification and characterization of a novel liver-specific enhancer of the human phenylalanine hydroxylase gene.
11935335
2002
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
C
0.810
CausalMutation
CLINVAR
Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria.
12501224
2002
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.810
GeneticVariation
UNIPROT
Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria.
12501224
2002
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.810
GeneticVariation
UNIPROT
Missense mutations in the N-terminal domain of human phenylalanine hydroxylase interfere with binding of regulatory phenylalanine.
11326337
2001
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.810
GeneticVariation
UNIPROT
Molecular analysis of phenylketonuria (PKU) in newborns from Texas.
11385716
2001
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
C
0.810
CausalMutation
CLINVAR
Should newborn mutation scanning for hyperphenylalaninaemia and galactosaemia be implemented? A Polish experience.
11678552
2001
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.810
GeneticVariation
UNIPROT
Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations.
10679941
2000
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.810
GeneticVariation
UNIPROT
Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L)
9950317
1999
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
C
0.810
CausalMutation
CLINVAR
Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation.
10598814
1999
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.810
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
rs199475598
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.810
GeneticVariation
UNIPROT
Identification of seven new mutations in the phenylalanine hydroxylase gene, associated with hyperphenylalaninemia in the Belgian population.
9452062
1998