|
Classical phenylketonuria
|
|
0.820 |
CausalMutation
|
CLINVAR |
Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.
|
25596310 |
2015 |
|
Classical phenylketonuria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Phenylketonuria Scientific Review Conference: state of the science and future research needs.
|
24667081 |
2014 |
|
Classical phenylketonuria
|
|
0.820 |
CausalMutation
|
CLINVAR |
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.
|
25087612 |
2014 |
|
Classical phenylketonuria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Phenylalanine hydroxylase deficiency: diagnosis and management guideline.
|
24385074 |
2014 |
|
Classical phenylketonuria
|
|
0.820 |
CausalMutation
|
CLINVAR |
Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain.
|
23500595 |
2013 |
|
Classical phenylketonuria
|
|
0.820 |
CausalMutation
|
CLINVAR |
Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S.
|
23430547 |
2013 |
|
Classical phenylketonuria
|
|
0.820 |
CausalMutation
|
CLINVAR |
Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria.
|
23559577 |
2013 |
|
Classical phenylketonuria
|
|
0.820 |
CausalMutation
|
CLINVAR |
Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.
|
22526846 |
2013 |
|
Classical phenylketonuria
|
|
0.820 |
CausalMutation
|
CLINVAR |
Mutation analysis in hyperphenylalaninemia patients from South Italy.
|
23792259 |
2013 |
|
Classical phenylketonuria
|
|
0.820 |
CausalMutation
|
CLINVAR |
Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness.
|
24350308 |
2013 |
|
Classical phenylketonuria
|
|
0.820 |
CausalMutation
|
CLINVAR |
Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness.
|
23764561 |
2013 |
|
Classical phenylketonuria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: Phenylketonuria.
|
21915151 |
2012 |
|
Classical phenylketonuria
|
|
0.820 |
CausalMutation
|
CLINVAR |
Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase.
|
21953985 |
2012 |
|
Classical phenylketonuria
|
|
0.820 |
CausalMutation
|
CLINVAR |
Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene.
|
22513348 |
2012 |
|
Classical phenylketonuria
|
|
0.820 |
CausalMutation
|
CLINVAR |
The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening.
|
22330942 |
2012 |
|
Classical phenylketonuria
|
|
0.820 |
CausalMutation
|
CLINVAR |
Natural phenylalanine hydroxylase variants that confer a mild phenotype affect the enzyme's conformational stability and oligomerization equilibrium.
|
21820508 |
2011 |
|
Classical phenylketonuria
|
|
0.820 |
CausalMutation
|
CLINVAR |
Predicting a clinical/biochemical phenotype for PKU/MHP patients with PAH gene mutations.
|
19062537 |
2008 |
|
Classical phenylketonuria
|
|
0.820 |
CausalMutation
|
CLINVAR |
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
|
17935162 |
2008 |
|
Classical phenylketonuria
|
|
0.820 |
CausalMutation
|
CLINVAR |
Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene.
|
18299955 |
2008 |
|
Classical phenylketonuria
|
|
0.820 |
CausalMutation
|
CLINVAR |
A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population.
|
18294361 |
2008 |
|
Classical phenylketonuria
|
|
0.820 |
CausalMutation
|
CLINVAR |
Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.
|
17096675 |
2007 |
|
Classical phenylketonuria
|
|
0.820 |
CausalMutation
|
CLINVAR |
Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients.
|
16198137 |
2005 |
|
Classical phenylketonuria
|
|
0.820 |
CausalMutation
|
CLINVAR |
Phenylalanine hydroxylase gene in psychiatric patients: screening and functional assay of mutations.
|
12644360 |
2003 |
|
Classical phenylketonuria
|
|
0.820 |
CausalMutation
|
CLINVAR |
The molecular basis of phenylketonuria in Lithuania.
|
12655550 |
2003 |
|
Classical phenylketonuria
|
|
0.820 |
CausalMutation
|
CLINVAR |
DHPLC mutation analysis of phenylketonuria.
|
12649065 |
2003 |