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 |
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 |
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
|
CLINVAR |
Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?
|
23430918 |
2012 |
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: Phenylketonuria.
|
21915151 |
2012 |
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations.
|
15557004 |
2004 |
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene.
|
22513348 |
2012 |
Classical phenylketonuria
|
|
0.810 |
CausalMutation
|
CLINVAR |
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.
|
26666653 |
2015 |
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 |
Identification of a new missense mutation in Japanese phenylketonuric patients.
|
8068076 |
1993 |
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 |
Identification of three novel mutations in Korean phenylketonuria patients: R53H, N207D, and Y325X.
|
9452061 |
1998 |
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 |
Phenylketonurias
|
|
0.020 |
GeneticVariation
|
BEFREE |
In vitro expression studies on R68G and R68S mutations causing mild phenylketonuria are presented.
|
11051201 |
2000 |
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability.
|
18538294 |
2008 |
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 |
Metabolic phenotypes of phenylketonuria. Kinetic and molecular evaluation of the Blaskovics protein loading test.
|
19609714 |
2009 |
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 |
GeneticVariation
|
CLINVAR |
Molecular basis of phenylketonuria in Cuba.
|
11524738 |
2001 |
Classical phenylketonuria
|
|
0.810 |
CausalMutation
|
CLINVAR |
Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain.
|
23500595 |
2013 |
Classical phenylketonuria
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain.
|
23500595 |
2013 |