(Q34649482)

3 August 2017

title

PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases (English)

1 reference

3 August 2017

0 references

4

Scriver CR

1 reference

3 August 2017

Nowacki PM

1

1 reference

3 August 2017

Byck S

series ordinal

2

1 reference

3 August 2017

Prevost L

series ordinal

3

1 reference

3 August 2017

language of work or name

English

0 references

publication date

1 January 1998

1 reference

3 August 2017

number of pages

6

1 reference

inferred from page(s)

published in

Nucleic Acids Research

1 reference

3 August 2017

volume

26

1 reference

3 August 2017

issue

1

1 reference

3 August 2017

page(s)

220-225

1 reference

Genome cross-referencing and XREFdb: implications for the identification and analysis of genes mutated in human disease

3 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147234

The PAH mutation analysis consortium database: update 1996.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147234

Mutation nomenclature: nicknames, systematic names, and unique identifiers

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147234

The phenylalanine hydroxylase locus: a marker for the history of phenylketonuria and human genetic diversity. PAH Mutation Analysis Consortium.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147234

PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147234

Novel PKU mutation on haplotype 2 in French-Canadians

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147234

Structural characterization of the 5' regions of the human phenylalanine hydroxylase gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147234

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147234

Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations

9 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9399840

12 December 2020

inferred from PubMed ID database lookup

Phenylketonuria splice mutation (EXON6nt-96A-->g) masquerading as missense mutation (Y204C)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9399840

12 December 2020

inferred from PubMed ID database lookup

Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9399840

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1093/NAR/26.1.220

1 reference

journals/nar/NowackiBPS98

3 August 2017

DBLP publication ID

1 reference

DBLP Dataset 2021-01-02

release_5nzrs6w5ezcp7eqnhgfve4s4ny

28 January 2021

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/5nzrs6w5ezcp7eqnhgfve4s4ny

24 November 2022

mapped directly with Wikidata item

PMC publication ID

147234

1 reference

3 August 2017

1 reference