|
rs5030858
|
|
Classical phenylketonuria
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.
|
25596310 |
2015 |
|
rs5030858
|
|
Classical phenylketonuria
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Phenylketonuria Scientific Review Conference: state of the science and future research needs.
|
24667081 |
2014 |
|
rs5030858
|
|
Classical phenylketonuria
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Phenylalanine hydroxylase deficiency: diagnosis and management guideline.
|
24385074 |
2014 |
|
rs5030858
|
|
Classical phenylketonuria
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.
|
22526846 |
2013 |
|
rs5030858
|
|
Classical phenylketonuria
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S.
|
23430547 |
2013 |
|
rs5030858
|
|
Classical phenylketonuria
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: Phenylketonuria.
|
21915151 |
2012 |
|
rs5030858
|
|
Classical phenylketonuria
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase.
|
21953985 |
2012 |
|
rs5030858
|
|
Classical phenylketonuria
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene.
|
22513348 |
2012 |
|
rs5030858
|
|
Classical phenylketonuria
|
A |
0.900 |
CausalMutation
|
CLINVAR |
START, a double blind, placebo-controlled pharmacogenetic test of responsiveness to sapropterin dihydrochloride in phenylketonuria patients.
|
22112818 |
2012 |
|
rs5030858
|
|
Classical phenylketonuria
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients.
|
18937047 |
2009 |
|
rs5030858
|
|
Classical phenylketonuria
|
A |
0.900 |
CausalMutation
|
CLINVAR |
The activity of wild type and mutant phenylalanine hydroxylase with respect to the C-oxidation of phenylalanine and the S-oxidation of S-carboxymethyl-L-cysteine.
|
19036622 |
2009 |
|
rs5030858
|
|
Classical phenylketonuria
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency.
|
19394257 |
2009 |
|
rs5030858
|
|
Classical phenylketonuria
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
|
17935162 |
2008 |
|
rs5030858
|
|
Classical phenylketonuria
|
A |
0.900 |
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 |
|
rs5030858
|
|
Classical phenylketonuria
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Molecular and phenotypic characteristics of patients with phenylketonuria in Serbia and Montenegro.
|
16879198 |
2006 |
|
rs5030858
|
|
Classical phenylketonuria
|
A |
0.900 |
CausalMutation
|
CLINVAR |
The molecular basis of phenylketonuria in Lithuania.
|
12655550 |
2003 |
|
rs5030858
|
|
Classical phenylketonuria
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH.
|
12655546 |
2003 |
|
rs5030858
|
|
Classical phenylketonuria
|
A |
0.900 |
CausalMutation
|
CLINVAR |
The mutation spectrum of hyperphenylalaninaemia in the Republic of Ireland: the population history of the Irish revisited.
|
12173030 |
2002 |
|
rs5030858
|
|
Classical phenylketonuria
|
A |
0.900 |
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 |
|
rs5030858
|
|
Classical phenylketonuria
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations.
|
8889590 |
1996 |
|
rs5030858
|
|
Classical phenylketonuria
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Genetic background of clinical homogeneity of phenylketonuria in Poland.
|
8097262 |
1993 |
|
rs5030858
|
|
Classical phenylketonuria
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Time and space clusters of the French-Canadian M1V phenylketonuria mutation in France.
|
1609797 |
1992 |
|
rs5030858
|
|
Classical phenylketonuria
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Molecular basis of phenotypic heterogeneity in phenylketonuria.
|
2014036 |
1991 |
|
rs5030858
|
|
Classical phenylketonuria
|
A |
0.900 |
CausalMutation
|
CLINVAR |
The codon 408 mutation associated with haplotype 2 is predominant in Polish families with phenylketonuria.
|
1671768 |
1991 |
|
rs5030858
|
|
Classical phenylketonuria
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations.
|
1971147 |
1990 |