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Phenylketonuria mutations in Europe
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
12655544
retrieved
6 August 2017
review article
1 reference
stated in
Europe PubMed Central
title
Phenylketonuria mutations in Europe
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
12655544
retrieved
6 August 2017
main subject
phenylketonuria
1 reference
based on heuristic
inferred from title
author name string
Johannes Zschocke
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
12655544
retrieved
6 August 2017
publication date
1 April 2003
1 reference
stated in
Europe PubMed Central
PubMed ID
12655544
retrieved
6 August 2017
published in
Human Mutation
1 reference
stated in
Europe PubMed Central
PubMed ID
12655544
retrieved
6 August 2017
volume
21
1 reference
stated in
Europe PubMed Central
PubMed ID
12655544
retrieved
6 August 2017
issue
4
1 reference
stated in
Europe PubMed Central
PubMed ID
12655544
retrieved
6 August 2017
page(s)
345-356
1 reference
stated in
Europe PubMed Central
PubMed ID
12655544
retrieved
6 August 2017
cites work
CpG dinucleotides are mutation hot spots in phenylketonuria
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
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inferred from DOI database lookup
The phenylketonuria G272X haplotype 7 mutation in European populations
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
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inferred from DOI database lookup
Mutational spectrum in German patients with phenylalanine hydroxylase deficiency
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
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inferred from DOI database lookup
The mutations and VNTRs in the phenylalanine hydroxylase gene of phenylketonuria in St Petersburg
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
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Haplotype distribution and mutations at the PAH locus in Croatia
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10192
retrieved
7 January 2021
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inferred from DOI database lookup
Geographical distribution of the P281L mutation at the phenylalanine hydroxylase locus: possible origin in southeastern Europe
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
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Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations
1 reference
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reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
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Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populations
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
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The STR252-IVS10nt546-VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
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Human Genomic Diversity in Europe: A Summary of Human Genomic Diversity in Europe: A Summary of Recent Research and Prospects for the Future
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reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
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Distribution of some point mutations in the phenylalanine hydroxylase gene of phenylketonuria patients from the Moscow region
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
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Phenylketonuria in Spanish Gypsies: prevalence of the IVS10nt546 mutation on haplotype 34
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
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Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions
1 reference
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reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
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PKU mutations R408Q and F299C in Norway: haplotype associations, geographic distributions and phenotype characteristics
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
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Relative frequency, heterogeneity and geographic clustering of PKU mutations in Norway.
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
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Ethnic distribution of phenylketonuria in the north German population
1 reference
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https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
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Genetic heterogeneity in five Italian regions: analysis of PAH mutations and minihaplotypes
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
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Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis.
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
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Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenyl-alaninemia in Southern Europe
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
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'Broad-range' DGGE for single-step mutation scanning of entire genes: application to human phenylalanine hydroxylase gene
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
based on heuristic
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Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients.
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
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Phenylketonuria in a low incidence population: molecular characterisation of mutations in Finland
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https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
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A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
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mtDNA and the origin of the Icelanders: deciphering signals of recent population history
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
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inferred from DOI database lookup
Genetic background of clinical homogeneity of phenylketonuria in Poland
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
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inferred from DOI database lookup
PKU in Slovakia: mutation screening and haplotype analysis
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
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Gypsy phenylketonuria: a point mutation of the phenylalanine hydroxylase gene in Gypsy families from Slovakia
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
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inferred from DOI database lookup
The molecular basis of phenylketonuria in Lithuania
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
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Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
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Haplotypes and linkage disequilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of populations
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
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A role for overdominant selection in phenylketonuria? Evidence from molecular data
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
based on heuristic
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Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
based on heuristic
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Mutation analysis of phenylketonuria in south and central Portugal: prevalence of V388M mutation.
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
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Phenylalanine hydroxylase gene mutation R408W is present on 84% of Estonian phenylketonuria chromosomes.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
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Identification of a missense phenylketonuria mutation at codon 408 in Chinese
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
based on heuristic
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Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
based on heuristic
inferred from DOI database lookup
RFLP haplotyping and mutation analysis of the phenylalanine hydroxylase gene in Dutch phenylketonuria families
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
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PAH gene mutations in the Sicilian population: association with minihaplotypes and expression analysis
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
based on heuristic
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The mutation spectrum of hyperphenylalaninaemia in the Republic of Ireland: the population history of the Irish revisited
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
based on heuristic
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Mutation analysis in Turkish phenylketonuria patients
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
based on heuristic
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Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric alleles
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
based on heuristic
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The molecular basis of phenylketonuria in Latvia
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10192
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
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Monogenic traits are not simple: lessons from phenylketonuria
1 reference
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https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
based on heuristic
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Why mutation analysis does not always predict clinical consequences: explanations in the era of genomics
1 reference
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https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
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PAHdb 2003: what a locus-specific knowledgebase can do.
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
based on heuristic
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Rapid mutation screening of phenylketonuria by polymerase chain reaction-linked restriction enzyme assay and direct sequence of the phenylalanine hydroxylase gene: clinical application in northern Japan and northern China
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
based on heuristic
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Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
based on heuristic
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Preliminary mutation analysis in the phenylalanine hydroxylase gene in Greek PKU and HPA patients
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
based on heuristic
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Phenylketonuria in Britain: genetic analysis gives a historical perspective of the disorder but will it predict the future for affected individuals?
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
based on heuristic
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Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
based on heuristic
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Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
based on heuristic
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Frequencies of the most common mutations responsible for phenylketonuria in Poland
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
based on heuristic
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Molecular basis of mild hyperphenylalaninaemia in Poland.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
based on heuristic
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Association between minihaplotypes and mutations at the PAH locus in Polish hyperphenylalaninemic patients
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
based on heuristic
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Non-phenylketonuria hyperphenylalaninaemia in Northern Ireland: frequent mutation allows screening and early diagnosis
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https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
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Phenylketonuria and the peoples of Northern Ireland
1 reference
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https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
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Phenylketonuria mutations in Germany
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
based on heuristic
inferred from DOI database lookup
The molecular basis of phenylalanine hydroxylase deficiency in Croatia
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.10192
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7 January 2021
based on heuristic
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Phenylketonuria in southern Poland: a new splice mutation in intron 9 at the PAH locus
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10192
retrieved
7 January 2021
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Identifiers
DOI
10.1002/HUMU.10192
1 reference
stated in
Europe PubMed Central
PubMed ID
12655544
retrieved
6 August 2017
PubMed ID
12655544
1 reference
stated in
Europe PubMed Central
PubMed ID
12655544
retrieved
6 August 2017
ResearchGate publication ID
10838838
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