(Q42664948)

English

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

scientific article published on November 1997

In more languages

default values for all languages

No label defined

No description defined

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

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

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

0 references

author name string

Kozák L

1

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

Blazková M

2

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

Kuhrová V

3

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

Pijácková A

4

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

Růzicková S

5

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

St'astná S

6

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

language of work or name

0 references

publication date

1 November 1997

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

34

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

11

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

893-898

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051115

27 May 2018

PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051115

27 May 2018

Complete spectrum of PAH mutations in Tataria: presence of Slavic, Turkic and Scandinavian mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051115

27 May 2018

A simple method for identification of point mutations using 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=1051115

27 May 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=1051115

27 May 2018

'Broad-range' DGGE for single-step mutation scanning of entire genes: application to 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=1051115

27 May 2018

Functional characterization of a unique liver gene promoter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051115

27 May 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=1051115

27 May 2018

The origin of the major cystic fibrosis mutation (delta F508) in European populations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051115

27 May 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=1051115

27 May 2018

Population genetics of phenylketonuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051115

27 May 2018

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=1051115

27 May 2018

1994 William Allan Award Address. Mitochondrial DNA variation in human evolution, degenerative disease, and aging

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051115

27 May 2018

Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051115

27 May 2018

Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051115

27 May 2018

Missense mutations prevalent in Orientals with phenylketonuria: molecular characterization and clinical implications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051115

27 May 2018

Aberrant splicing of phenylalanine hydroxylase mRNA: The major cause for phenylketonuria in parts of southern Europe

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051115

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051115

27 May 2018

Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051115

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051115

27 May 2018

Multiple origins for phenylketonuria in Europe

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051115

27 May 2018

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=1051115

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051115

27 May 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=1051115

16 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=1051115

16 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051115

16 August 2018

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/9391881

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haplotype distribution at the phenylalanine hydroxylase locus in PKU families from the Moravian area of Czechoslovakia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9391881

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9391881

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA sequence polymorphisms in exonic and intronic regions of the human phenylalanine hydroxylase gene aid in the identification of alleles

1 reference

https://pubmed.ncbi.nlm.nih.gov/9391881

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9391881

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/9391881

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9391881

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9391881

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DGGE analysis as supplement to SSCP analysis of the phenylalanine hydroxylase gene: detection of eight (one de novo, seven inherited) of nine remaining Norwegian PKU mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/9391881

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.34.11.893

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q42664948&oldid=2152276073"