(Q40580823)

English

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

scientific article published on May 1990

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scholarly article

1 reference

Europe PubMed Central

21 September 2017

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

1 reference

Europe PubMed Central

21 September 2017

Charles R. Scriver

3

object named as

Scriver CR

1 reference

Europe PubMed Central

21 September 2017

author name string

John SW

1

1 reference

Europe PubMed Central

21 September 2017

Rozen R

2

1 reference

Europe PubMed Central

21 September 2017

Laframboise R

4

1 reference

Europe PubMed Central

21 September 2017

Laberge C

5

1 reference

Europe PubMed Central

21 September 2017

language of work or name

0 references

publication date

1 May 1990

1 reference

Europe PubMed Central

21 September 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

21 September 2017

46

1 reference

Europe PubMed Central

21 September 2017

5

1 reference

Europe PubMed Central

21 September 2017

970-974

1 reference

Europe PubMed Central

21 September 2017

GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683606

22 September 2017

Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683606

22 September 2017

Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683606

22 September 2017

The CpG dinucleotide and human genetic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683606

22 September 2017

Mendelian hyperphenylalaninemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683606

22 September 2017

Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683606

22 September 2017

Molecular genetics of phenylketonuria in Orientals: linkage disequilibrium between a termination mutation and haplotype 4 of the phenylalanine hydroxylase gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683606

22 September 2017

Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683606

22 September 2017

Novel PKU mutation on haplotype 2 in French-Canadians

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683606

22 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683606

22 September 2017

At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683606

22 September 2017

Missense mutations associated with RFLP haplotypes 1 and 4 of 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=1683606

22 September 2017

Beta-thalassemia genes in French-Canadians: haplotype and mutation analysis of Portneuf chromosomes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683606

22 September 2017

Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683606

17 June 2018

Collation of RFLP haplotypes 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=1683606

17 June 2018

Linkage disequilibrium between RFLP haplotype 2 and the affected PAH allele in PKU families from the Berlin area of the German Democratic Republic.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683606

17 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683606

17 June 2018

Phenylketonuria: detection of a frequent haplotype 4 allele mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683606

17 June 2018

Haplotype distribution of the human phenylalanine hydroxylase locus in Scotland and Switzerland.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683606

17 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683606

20 August 2018

CpG dinucleotides are mutation hot spots in phenylketonuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683606

20 August 2018

Phenylketonuria in the Greek population. Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/1971147

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening for phenylketonuria mutations by DNA amplification with the polymerase chain reaction

1 reference

https://pubmed.ncbi.nlm.nih.gov/1971147

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage disequilibrium between mutation and RFLP haplotype at the phenylalanine hydroxylase locus in the German population

1 reference

https://pubmed.ncbi.nlm.nih.gov/1971147

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenylketonuria: distribution of DNA diagnostic patterns in German families

1 reference

https://pubmed.ncbi.nlm.nih.gov/1971147

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1971147

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/1971147

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

21 September 2017

1 reference

Europe PubMed Central

21 September 2017

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