Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal (Q42665693)

4 November 2017

Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal (English)

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4 November 2017

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Rivera I

1

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4 November 2017

Leandro P

2

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4 November 2017

Lichter-Konecki U

3

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4 November 2017

Tavares de Almeida I

4

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4 November 2017

Lechner MC

5

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4 November 2017

language of work or name

English

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publication date

1 April 1998

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Journal of Medical Genetics

4 November 2017

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4 November 2017

35

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4 November 2017

4

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4 November 2017

301-304

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The PAH mutation analysis consortium database: update 1996.

4 November 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051278

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051278

Mutation analysis of phenylketonuria in south Brazil

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051278

Molecular basis of non-PKU hyperphenylalaninaemia in Spain: prevalence of A403V, a mutation with high residual activity

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051278

Preliminary studies on the molecular basis of hyperphenylalaninemia in Egypt

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051278

Mutation analysis in Turkish phenylketonuria patients

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051278

Mutation profiles of phenylketonuria in Quebec populations: evidence of stratification and novel mutations.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051278

Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051278

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051278

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051278

Collation of RFLP haplotypes at the human phenylalanine hydroxylase (PAH) locus

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051278

Molecular characterization of PKU allele prevalent in southern Europe and Ireland

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051278

PCR detection of the Mspl (Aa) RFLP at the human phenylalanine hydroxylase (PAH) locus

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051278

PCR detection of the PvuII (Ea) RFLP at the human phenylalanine hydroxylase (PAH) locus

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051278

Phenylalanine hydroxylase gene: Novel missense mutation in exon 7 causing severe phenylketonuria

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051278

Updated listing of haplotypes at the human phenylalanine hydroxylase (PAH) locus

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051278

Multiple origins for phenylketonuria in Europe

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051278

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051278

Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in Portugal.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051278

Detection of the XmnI RFLP at the human PAH locus by PCR

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051278

DNA sequencing with chain-terminating inhibitors

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051278

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051278

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

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051278

Origins of hyperphenylalaninemia in Israel.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051278

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

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051278

CpG dinucleotides are mutation hot spots in phenylketonuria

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051278

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

16 August 2018

1 reference

12 December 2020

Phenylketonuria missense mutations in the Mediterranean

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12 December 2020

Phenylketonuria mutation in southern Europeans

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12 December 2020

Molecular and population genetics of phenylketonuria in Orientals: correlation between phenotype and genotype

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12 December 2020

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

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12 December 2020

Spectrum and origin of phenylketonuria mutations in Spain

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12 December 2020

Characterization of phenylketonuria alleles in the Italian population

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12 December 2020

Identifiers

DOI

10.1136/JMG.35.4.301

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4 November 2017

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4 November 2017

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