Phenylketonuria mutations in Europe (Q35091570)

6 August 2017

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title

Phenylketonuria mutations in Europe (English)

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6 August 2017

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Johannes Zschocke

1

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6 August 2017

publication date

1 April 2003

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6 August 2017

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6 August 2017

volume

21

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6 August 2017

issue

4

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6 August 2017

page(s)

345-356

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CpG dinucleotides are mutation hot spots in phenylketonuria

6 August 2017

cites work

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7 January 2021

The phenylketonuria G272X haplotype 7 mutation in European populations

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7 January 2021

Mutational spectrum in German patients with phenylalanine hydroxylase deficiency

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7 January 2021

The mutations and VNTRs in the phenylalanine hydroxylase gene of phenylketonuria in St Petersburg

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7 January 2021

Haplotype distribution and mutations at the PAH locus in Croatia

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7 January 2021

Geographical distribution of the P281L mutation at the phenylalanine hydroxylase locus: possible origin in southeastern Europe

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7 January 2021

Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations

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7 January 2021

Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populations

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7 January 2021

The STR252-IVS10nt546-VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples

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7 January 2021

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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7 January 2021

Distribution of some point mutations in the phenylalanine hydroxylase gene of phenylketonuria patients from the Moscow region

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7 January 2021

Phenylketonuria in Spanish Gypsies: prevalence of the IVS10nt546 mutation on haplotype 34

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7 January 2021

Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions

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7 January 2021

PKU mutations R408Q and F299C in Norway: haplotype associations, geographic distributions and phenotype characteristics

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7 January 2021

Relative frequency, heterogeneity and geographic clustering of PKU mutations in Norway.

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7 January 2021

Ethnic distribution of phenylketonuria in the north German population

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7 January 2021

Genetic heterogeneity in five Italian regions: analysis of PAH mutations and minihaplotypes

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7 January 2021

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

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7 January 2021

Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenyl-alaninemia in Southern Europe

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7 January 2021

'Broad-range' DGGE for single-step mutation scanning of entire genes: application to human phenylalanine hydroxylase gene

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7 January 2021

Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients

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7 January 2021

Phenylketonuria in a low incidence population: molecular characterisation of mutations in Finland

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7 January 2021

A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype

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7 January 2021

mtDNA and the origin of the Icelanders: deciphering signals of recent population history

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7 January 2021

Genetic background of clinical homogeneity of phenylketonuria in Poland

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7 January 2021

PKU in Slovakia: mutation screening and haplotype analysis

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7 January 2021

Gypsy phenylketonuria: a point mutation of the phenylalanine hydroxylase gene in Gypsy families from Slovakia

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7 January 2021

The molecular basis of phenylketonuria in Lithuania

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7 January 2021

Human Phenylalanine Hydroxylase Mutations and Hyperphenylalaninemia Phenotypes: A Metanalysis of Genotype-Phenotype Correlations

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7 January 2021

Haplotypes and linkage disequilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of populations

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7 January 2021

Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations

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7 January 2021

A role for overdominant selection in phenylketonuria? Evidence from molecular data

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7 January 2021

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

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7 January 2021

Mutation analysis of phenylketonuria in south and central Portugal: prevalence of V388M mutation.

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7 January 2021

Phenylalanine hydroxylase gene mutation R408W is present on 84% of Estonian phenylketonuria chromosomes.

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7 January 2021

Identification of a missense phenylketonuria mutation at codon 408 in Chinese

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7 January 2021

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

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7 January 2021

RFLP haplotyping and mutation analysis of the phenylalanine hydroxylase gene in Dutch phenylketonuria families

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7 January 2021

PAH gene mutations in the Sicilian population: association with minihaplotypes and expression analysis

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7 January 2021

The mutation spectrum of hyperphenylalaninaemia in the Republic of Ireland: the population history of the Irish revisited

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7 January 2021

Mutation analysis in Turkish phenylketonuria patients

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7 January 2021

Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric alleles

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7 January 2021

The molecular basis of phenylketonuria in Latvia

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7 January 2021

Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal

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7 January 2021

Monogenic traits are not simple: lessons from phenylketonuria

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7 January 2021

Why mutation analysis does not always predict clinical consequences: explanations in the era of genomics

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7 January 2021

PAHdb 2003: what a locus-specific knowledgebase can do.

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7 January 2021

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

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7 January 2021

Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients

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7 January 2021

Preliminary mutation analysis in the phenylalanine hydroxylase gene in Greek PKU and HPA patients

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7 January 2021

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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7 January 2021

Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis

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7 January 2021

Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia

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7 January 2021

Frequencies of the most common mutations responsible for phenylketonuria in Poland

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7 January 2021

Molecular basis of mild hyperphenylalaninaemia in Poland.

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7 January 2021

Association between minihaplotypes and mutations at the PAH locus in Polish hyperphenylalaninemic patients

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7 January 2021

Non-phenylketonuria hyperphenylalaninaemia in Northern Ireland: frequent mutation allows screening and early diagnosis

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7 January 2021

Phenylketonuria and the peoples of Northern Ireland

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7 January 2021

Phenylketonuria mutations in Germany

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7 January 2021

The molecular basis of phenylalanine hydroxylase deficiency in Croatia

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7 January 2021

Phenylketonuria in southern Poland: a new splice mutation in intron 9 at the PAH locus

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7 January 2021

Identifiers

DOI

10.1002/HUMU.10192

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6 August 2017

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