(Q43105533)

14 November 2017

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

1 reference

14 November 2017

Woo SL

1

1 reference

14 November 2017

language of work or name

English

0 references

publication date

1 November 1988

1 reference

American Journal of Human Genetics

14 November 2017

1 reference

14 November 2017

43

1 reference

14 November 2017

5

1 reference

14 November 2017

781-783

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=1715539

Phenylketonuria and other phenylalanine hydroxylation mutants in man.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715539

Polysome immunoprecipitation of phenylalanine hydroxylase mRNA from rat liver and cloning of its cDNA.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715539

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=1715539

Gene transfer and expression 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=1715539

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715539

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=1715539

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715539

Biochemical characterization of recombinant human phenylalanine hydroxylase produced in Escherichia coli.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715539

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715539

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715539

Prenatal diagnosis of classic phenylketonuria by DNA analysis

15 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2903669

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/2903669

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2903669

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

14 November 2017

PubMed publication ID

2903669

1 reference