rs199475580
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.700
GeneticVariation
UNIPROT
Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene.
22513348
2012
rs199475580
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.700
GeneticVariation
UNIPROT
Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability.
18538294
2008
rs199475580
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.700
GeneticVariation
UNIPROT
Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria.
12501224
2002
rs199475580
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.700
GeneticVariation
UNIPROT
Missense mutations in the N-terminal domain of human phenylalanine hydroxylase interfere with binding of regulatory phenylalanine.
11326337
2001
rs199475580
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.700
GeneticVariation
UNIPROT
Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations.
10679941
2000
rs199475580
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.700
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
rs199475580
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.700
GeneticVariation
UNIPROT
Identification of three novel mutations in Korean phenylketonuria patients: R53H, N207D, and Y325X.
9452061
1998
rs199475580
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.700
GeneticVariation
UNIPROT
Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric alleles.
9792407
1998
rs199475580
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.700
GeneticVariation
UNIPROT
Identification of seven new mutations in the phenylalanine hydroxylase gene, associated with hyperphenylalaninemia in the Belgian population.
9452062
1998
rs199475580
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.700
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
rs199475580
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.700
GeneticVariation
UNIPROT
Two novel PAH gene mutations detected in Italian phenylketonuric patients.
9048935
1997
rs199475580
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.700
GeneticVariation
UNIPROT
Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populations.
9101291
1997
rs199475580
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.700
GeneticVariation
UNIPROT
Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations.
8889590
1996
rs199475580
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.700
GeneticVariation
UNIPROT
Identification of a new missense mutation in Japanese phenylketonuric patients.
8068076
1993
rs199475580
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.700
GeneticVariation
UNIPROT
Identification of a missense phenylketonuria mutation at codon 408 in Chinese.
1355066
1992
rs199475580
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.700
GeneticVariation
UNIPROT
A new PKU mutation associated with haplotype 12.
1363838
1992
rs199475580
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.700
GeneticVariation
UNIPROT
A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria.
1363837
1992
rs199475580
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.700
GeneticVariation
UNIPROT
Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria.
1672290
1991
rs199475580
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.700
GeneticVariation
UNIPROT
Phenylketonuria missense mutations in the Mediterranean.
1672294
1991
rs199475580
×
Entrez Id:
5053
Gene Symbol:
PAH
PAH
Classical phenylketonuria
0.700
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