Variant: rs62514895

present in Gene: PAH present in Chromosome: 12 Position on Chromosome: 102917066 Alleles of this Variant: C/A;T

rs62514895 in PAH gene and Classical phenylketonuria PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 24941924 2015 Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect.

PMID 8406445 1993 Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis.

PMID 11180595 2001 Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria.

PMID 18937047 2009 Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients.

PMID 10598814 1999 Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation.

PMID 22841515 2012 Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria.

PMID 23430918 2012 Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?

PMID 24368688 2014 The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.

PMID 22112818 2012 START, a double blind, placebo-controlled pharmacogenetic test of responsiveness to sapropterin dihydrochloride in phenylketonuria patients.

PMID 23514811 2013 Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.

rs62514895 in PAH gene and Muscle hypotonia PMID 11328945 2001 Congenital heart disease in maternal phenylketonuria: report from the Maternal PKU Collaborative Study.

PMID 17410469 2007 Meta-analysis of neuropsychological symptoms of adolescents and adults with PKU.

PMID 20188615 2010 Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: identification of novel mutations that affect PAH RNA.

PMID 17443661 2007 The PAH gene, phenylketonuria, and a paradigm shift.

PMID 17935162 2008 Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

PMID 22965559 2013 Unusual Case of Phenylketonuria With Atypical Brain Magnetic Resonance Imaging Findings.

PMID 15665165 2005 Maternal phenylketonuria: report from the United Kingdom Registry 1978-97.

PMID 11581453 2001 National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000.

PMID 15171997 2004 The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

PMID 8406445 1993 Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis.

PMID 14760268 2004 Effect of high maternal blood phenylalanine on offspring congenital anomalies and developmental outcome at ages 4 and 6 years: the importance of strict dietary control preconception and throughout pregnancy.

PMID 18566668 2008 Phenylketonuria: an inborn error of phenylalanine metabolism.

PMID 25596310 2015 Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.

PMID 11043162 2000 Mutation analysis anticipates dietary requirements in phenylketonuria.

PMID 23792259 2013 Mutation analysis in hyperphenylalaninemia patients from South Italy.

PMID 23514811 2013 Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.

PMID 9399896 1997 Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.