(Q40556948)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1609797%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

title

Time and space clusters of the French-Canadian M1V phenylketonuria mutation in France (English)

1 reference

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22 September 2019

1 reference

1

1 reference

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22 September 2019

author name string

Melle D

2

1 reference

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22 September 2019

de Braekeleer M

3

1 reference

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22 September 2019

Laframboise R

4

1 reference

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22 September 2019

Rey F

5

1 reference

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22 September 2019

John SW

6

1 reference

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22 September 2019

Berthelon M

7

1 reference

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22 September 2019

Berthelot J

8

1 reference

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22 September 2019

Journel H

9

1 reference

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22 September 2019

Le Marec B

10

1 reference

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22 September 2019

language of work or name

English

0 references

publication date

1 July 1992

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1609797%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

22 September 2019

published in

1 reference

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22 September 2019

volume

51

1 reference

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22 September 2019

issue

1

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22 September 2019

page(s)

191-196

1 reference

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Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene

22 September 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682893

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682893

Novel PKU mutation on haplotype 2 in French-Canadians

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682893

Molecular genetics of phenylketonuria and its implications

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682893

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682893

Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuria

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682893

Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682893

A single origin of phenylketonuria in Yemenite Jews

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682893

Spectrum of phenylketonuria mutations in Western Europe and North Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682893

Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682893

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682893

Phenylketonuria. Population genetics of a disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682893

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682893

Phenylketonuria mutation in Chinese haplotype 44 identical with haplotype 2 mutation in northern-European Caucasians

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682893

Molecular heterogeneity at the phenylalanine hydroxylase locus in the population of the south-west of England

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682893

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682893

CpG dinucleotides are mutation hot spots in phenylketonuria

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682893

[Migration to Canada under the French regime (1608-1760)].

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682893

A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria

4 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682893

Founder effect in familial hyperchylomicronemia among French Canadians of Quebec

4 November 2018

1 reference

12 December 2020

Molecular analysis of PKU haplotypes in the population of southern Poland

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

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1609797%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

PubMed publication ID

1609797

1 reference