(Q44098358)

29 November 2017

title

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

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29 November 2017

Kate A O'Donnell

1

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29 November 2017

Charles O'Neill

2

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29 November 2017

Orna Tighe

3

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29 November 2017

Giorgio Bertorelle

4

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29 November 2017

Eileen Naughten

5

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29 November 2017

Philip D Mayne

6

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29 November 2017

David T Croke

7

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29 November 2017

publication date

1 September 2002

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European Journal of Human Genetics

29 November 2017

published in

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29 November 2017

volume

10

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29 November 2017

issue

9

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29 November 2017

page(s)

530-538

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

29 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200841

The PAH mutation analysis consortium database: update 1996.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200841

PAHdb: a locus-specific knowledgebase.

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200841

Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200841

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200841

Phenylketonuria and the peoples of Northern Ireland

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200841

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200841

Direct sequencing of polymerase chain reaction-amplified DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200841

Inferring admixture proportions from molecular data

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200841

Analyses of cross species polymerase chain reaction products to infer the ancestral state of human polymorphisms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200841

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200841

Population structure and anthropometric variation in rural western Ireland: Migration and biological differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200841

Phenylketonuria mutations and linked haplotypes in the Lithuanian population: origin of the most common R408W mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200841

Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200841

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200841

Estimating Scandinavian and Gaelic ancestry in the male settlers of Iceland

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200841

mtDna and the islands of the North Atlantic: estimating the proportions of Norse and Gaelic ancestry

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200841

Y-chromosome variation and Irish origins.

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200841

Genetics and the population history of Europe

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200841

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200841

Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200841

Spatial autocorrelation in biology: 1. Methodology

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200841

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200841

7 January 2021

Analysis of exon 7 of the human phenylalanine hydroxylase gene: a mutation hot spot?

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200841

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200841

7 January 2021

Geographical distribution gradients of the major PKU mutations and the linked haplotypes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200841

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200841

7 January 2021

THE FREQUENCIES OF THE ABO AND RH (D) BLOOD GROUPS IN IRELAND FROM A SAMPLE OF 1 IN 18 OF THE POPULATION

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200841

7 January 2021

Early Christian Ireland

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Identifiers

DOI

10.1038/SJ.EJHG.5200841

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release_qxdj2tqjhvezznkdcfjbturgu4

29 November 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/qxdj2tqjhvezznkdcfjbturgu4

24 November 2022

mapped directly with Wikidata item

1 reference