(Q34390644)

1 August 2017

title

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

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1 August 2017

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linkage disequilibrium

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J Parnas

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Jonathan Scott Friedlaender

1 August 2017

object named as

J Friedlaender

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1 August 2017

J R Kidd

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1 August 2017

A J Pakstis

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1 August 2017

H Zhao

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1 August 2017

R B Lu

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1 August 2017

F E Okonofua

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1 August 2017

A Odunsi

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1 August 2017

E Grigorenko

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1 August 2017

B B Tamir

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1 August 2017

L O Schulz

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1 August 2017

K K Kidd

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1 August 2017

language of work or name

English

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publication date

27 April 2000

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American Journal of Human Genetics

1 August 2017

published in

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1 August 2017

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1 August 2017

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1 August 2017

page(s)

1882-1899

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The Interaction of Selection and Linkage. I. General Considerations; Heterotic Models

1 August 2017

cites work

1 reference

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6 July 2018

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

6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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Evolution of haplotypes at the DRD2 locus.

6 July 2018

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Linkage disequilibrium predicts physical distance in the adenomatous polyposis coli region.

6 July 2018

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An E-M algorithm and testing strategy for multiple-locus haplotypes

6 July 2018

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HAPLO: a program using the EM algorithm to estimate the frequencies of multi-site haplotypes.

6 July 2018

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Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population

6 July 2018

1 reference

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Population studies on southwestern Indian tribes. II. Local genetic differentiation in the Papago

6 July 2018

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Detection of hepatic phenylalanine 4-hydroxylase in classical phenylketonuria

6 July 2018

1 reference

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Regional mapping of the phenylalanine hydroxylase gene and the phenylketonuria locus in the human genome

6 July 2018

1 reference

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Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene

6 July 2018

1 reference

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

6 July 2018

1 reference

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Phenylketonuria. Population genetics of a disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378054

Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378054

Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in Asian families with phenylketonuria (PKU).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378054

Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in European families with phenylketonuria (PKU)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378054

Phenylalanine hydroxylase gene haplotypes in Polynesians: evolutionary origins and absence of alleles associated with severe phenylketonuria

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378054

Phenylketonuria in U.S. blacks: molecular analysis of the phenylalanine hydroxylase gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378054

Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378054

A termination mutant prevalent in Norwegian haplotype 7 phenylketonuria genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378054

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378054

Genotyping and haplotyping of polymorphisms directly from genomic DNA via coupled amplification and sequencing(CAS)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378054

Studies of three Amerindian populations using nuclear DNA polymorphisms

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378054

The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378054

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378054

Multiple origins for phenylketonuria in Europe

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378054

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378054

Assessing linkage disequilibrium in a complex genetic system. I. Overall deviation from random association.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378054

Short tandem repeat polymorphism evolution in humans

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378054

A global survey of haplotype frequencies and linkage disequilibrium at the DRD2 locus

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378054

Distribution and frequency of a polymorphic Alu insertion at the plasminogen activator locus in humans

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378054

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378054

Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378054

Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378054

An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378054

Quantification of the close association between DNA haplotypes and specific β-thalassaemia mutations in Mediterraneans

27 October 2018

1 reference

12 December 2020

The codon 408 mutation associated with haplotype 2 is predominant in Polish families with phenylketonuria

1 reference

12 December 2020

Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus and their relation to phenotype in Swedish phenylketonuria families

1 reference

12 December 2020

Haplotype analysis of the phenylalanine hydroxylase gene in Turkish phenylketonuria families

1 reference

12 December 2020

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

1 reference

12 December 2020

Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

1 reference

12 December 2020

Haplotype distribution and mutations at the PAH locus in Croatia

1 reference

12 December 2020

Analysis of the molecular variance at the phenylalanine hydroxylase (PAH) locus

1 reference

12 December 2020

Molecular analysis of PKU haplotypes in the population of southern Poland

1 reference

12 December 2020

Identifiers

DOI

10.1086/302952

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1 August 2017

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1 August 2017

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