Updated listing of haplotypes at the human phenylalanine hydroxylase (PAH) locus (Q43146272)

14 November 2017

Updated listing of haplotypes at the human phenylalanine hydroxylase (PAH) locus (English)

1 reference

14 November 2017

Eisensmith RC

1

1 reference

14 November 2017

Woo SL

series ordinal

2

1 reference

14 November 2017

language of work or name

English

0 references

publication date

1 December 1992

1 reference

American Journal of Human Genetics

14 November 2017

1 reference

14 November 2017

51

1 reference

14 November 2017

6

1 reference

14 November 2017

1445-1448

1 reference

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

14 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682911

The PKU locus in man is on chromosome 12.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682911

Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682911

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682911

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682911

Phenylketonuria and the phenylalanine hydroxylase gene.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682911

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682911

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682911

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682911

Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682911

Outcome of the patients detected by newborn screening in Japan.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682911

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

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682911

Prenatal diagnosis of classic phenylketonuria by DNA analysis

15 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1361103

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus in prenatal diagnosis of phenylketonuria

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1361103

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

14 November 2017

1 reference