Associated Papers
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases.
Sotnikova EA et al.
Journal of Personalized Medicine, 2022
35887629 (PubMed )
Supplement: jpm-12-01132-s001.zip › jpm-1782533-supplementary.xlsx › S1
In silico screening and molecular dynamics simulation of deleterious PAH mutations responsible for phenylketonuria genetic disorder.
Lopez A et al.
Proteins, 2021
Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.
Liu N et al.
Bmc Medical Genetics, 2018
Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.
Liu N et al.
Bmc Medical Genetics, 2017
28982351 (PubMed )
Supplement: 12881_2017_467_MOESM1_ESM.xls › Sheet1
Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase.
Shi Z et al.
Proteins, 2012
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeIII
A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria.
Erlandsen H et al.
Journal of Inherited Metabolic Disease, 2001
Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype-phenotype correlations in phenylketonuria.
Jennings IG et al.
European Journal of Human Genetics : Ejhg, 2000
Partial characterization and three-dimensional-structural localization of eight mutations in exon 7 of the human phenylalanine hydroxylase gene associated with phenylketonuria.
Bjørgo E et al.
European Journal of Biochemistry, 1998
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.
Guldberg P et al.
American Journal of Human Genetics, 1998
Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populations.
Byck S et al.
Human Mutation, 1997
Science, medicine and phenylketonuria.
Scriver CR
Acta Paediatrica (oslo, Norway : 1992). Supplement, 1994
Identical SRY mutations with different phenotypic effects.
Mittwoch U
American Journal of Human Genetics, 1993
Analysis of exon 7 of the human phenylalanine hydroxylase gene: a mutation hot spot?
Dworniczak B et al.
Human Mutation, 1992
Select a paper to view details