(Q35198603)

7 August 2017

A termination mutant prevalent in Norwegian haplotype 7 phenylketonuria genes (English)

1 reference

7 August 2017

1 reference

Apold J

1

1 reference

7 August 2017

Eiken HG

2

1 reference

7 August 2017

Odland E

3

1 reference

7 August 2017

Fredriksen A

4

1 reference

7 August 2017

Bakken A

5

1 reference

7 August 2017

Lorens JB

6

1 reference

7 August 2017

Boman H

7

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 December 1990

1 reference

American Journal of Human Genetics

7 August 2017

1 reference

7 August 2017

47

1 reference

7 August 2017

6

1 reference

7 August 2017

1002-1007

1 reference

Blot hybridisation analysis of genomic DNA

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683913

Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683913

Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683913

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683913

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683913

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683913

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683913

Phenylketonuria: detection of a frequent haplotype 4 allele mutation.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683913

Novel PKU mutation on haplotype 2 in French-Canadians

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683913

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683913

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683913

A single origin of phenylketonuria in Yemenite Jews

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683913

Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683913

Anthropological significance of phenylketonuria

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683913

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683913

CpG dinucleotides are mutation hot spots in phenylketonuria

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683913

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

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1978553

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Analysis of enzymatically amplified β-globin and HLA-DQα DNA with allele-specific oligonucleotide probes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1978553

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1978553

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

PMCID

1683913

1 reference

7 August 2017

1 reference