(Q40727225)

English

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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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

23 September 2017

1 reference

Europe PubMed Central

Phenylketonuria in Britain: genetic analysis gives a historical perspective of the disorder but will it predict the future for affected individuals? (English)

1 reference

Europe PubMed Central

PMC publication ID

23 September 2017

phenylketonuria

1 reference

based on heuristic

inferred from title

author name string

Tyfield LA

1

1 reference

Europe PubMed Central

PMC publication ID

23 September 2017

language of work or name

0 references

publication date

1 August 1997

1 reference

Europe PubMed Central

PMC publication ID

23 September 2017

Journal of Clinical Pathology

1 reference

Europe PubMed Central

PMC publication ID

23 September 2017

50

1 reference

Europe PubMed Central

PMC publication ID

23 September 2017

4

1 reference

Europe PubMed Central

PMC publication ID

23 September 2017

169-174

1 reference

Europe PubMed Central

PMC publication ID

23 September 2017

The PAH mutation analysis consortium database: update 1996.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379622

25 September 2017

Sequence variation at the phenylalanine hydroxylase gene in the British Isles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379622

25 September 2017

Discordant phenylketonuria phenotypes in one family: the relationship between genotype and clinical outcome is a function of multiple effects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379622

25 September 2017

Comparison of genotype and intellectual phenotype in untreated PKU patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379622

25 September 2017

Characterization of phenylalanine hydroxylase alleles in untreated phenylketonuria patients from Victoria, Australia: origin of alleles and haplotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379622

25 September 2017

Polysome immunoprecipitation of phenylalanine hydroxylase mRNA from rat liver and cloning of its cDNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379622

25 September 2017

Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379622

25 September 2017

Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379622

25 September 2017

Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379622

25 September 2017

Genetic analysis of treated and untreated phenylketonuria in one family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379622

25 September 2017

Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379622

25 September 2017

Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379622

25 September 2017

The phenylalanine hydroxylase locus: a marker for the history of phenylketonuria and human genetic diversity. PAH Mutation Analysis Consortium.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379622

25 September 2017

Molecular basis of phenotypic heterogeneity in phenylketonuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379622

25 September 2017

Analysis of the phenylalanine hydroxylase gene in the Spanish population: mutation profile and association with intragenic polymorphic markers.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379622

15 June 2018

Mutation analysis of phenylketonuria in south Brazil

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379622

15 June 2018

Phenylketonuria mutation analysis in Northern Ireland: a rapid stepwise approach.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379622

15 June 2018

Mutation analysis in Turkish phenylketonuria patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379622

15 June 2018

Genetic history of phenylketonuria mutations in Italy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379622

15 June 2018

Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379622

15 June 2018

In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379622

15 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379622

19 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379622

19 August 2018

A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379622

19 August 2018

Phenylketonuria mutations and their relation to RFLP haplotypes at the PAH locus in Czech PKU families

1 reference

https://pubmed.ncbi.nlm.nih.gov/9350299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9350299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9350299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12

1 reference

https://pubmed.ncbi.nlm.nih.gov/9350299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9350299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

'Celtic' phenylketonuria chromosomes found? Evidence in two regions of Quebec Province

1 reference

https://pubmed.ncbi.nlm.nih.gov/9350299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9350299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of phenylketonuria alleles in the Italian population

1 reference

https://pubmed.ncbi.nlm.nih.gov/9350299

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/MP.50.4.169

1 reference

Europe PubMed Central

PMC publication ID

23 September 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

23 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

23 September 2017

ResearchGate publication ID

0 references

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