Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Should newborn mutation scanning for hyperphenylalaninaemia and galactosaemia be implemented? A Polish experience.
|
11678552 |
2001 |
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 |
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Missense mutations in the N-terminal domain of human phenylalanine hydroxylase interfere with binding of regulatory phenylalanine.
|
11326337 |
2001 |
Classical phenylketonuria
|
|
0.810 |
CausalMutation
|
CLINVAR |
In vitro expression studies on R68G and R68S mutations causing mild phenylketonuria are presented.
|
11051201 |
2000 |
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
BEFREE |
In vitro expression studies on R68G and R68S mutations causing mild phenylketonuria are presented.
|
11051201 |
2000 |
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations.
|
10679941 |
2000 |
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 |
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Should genetic analysis in newborn screening and a heterozygote test for hyperphenylalaninaemia be recommended? An Italian study.
|
10693064 |
1999 |
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Mutations in exon 3 of the PAH gene causing mild hyperphenylalaninemia.
|
10495930 |
1999 |
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Phenylketonuria mutations in Germany.
|
10394930 |
1999 |
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric alleles.
|
9792407 |
1998 |
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
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 |
Classical phenylketonuria
|
|
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 |
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of three novel mutations in Korean phenylketonuria patients: R53H, N207D, and Y325X.
|
9452061 |
1998 |
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 |
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 |
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 |
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Two novel PAH gene mutations detected in Italian phenylketonuric patients.
|
9048935 |
1997 |
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations.
|
8889590 |
1996 |
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations.
|
8889590 |
1996 |
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of a new missense mutation in Japanese phenylketonuric patients.
|
8068076 |
1993 |
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of a missense phenylketonuria mutation at codon 408 in Chinese.
|
1355066 |
1992 |
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria.
|
1363837 |
1992 |
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A new PKU mutation associated with haplotype 12.
|
1363838 |
1992 |
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria.
|
1672290 |
1991 |