(Q52016288)

English

The identification of a recurrent phosphoglycerate kinase mutation associated with chronic haemolytic anaemia and neurological dysfunction in a family from USA.

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/16740138

The identification of a recurrent phosphoglycerate kinase mutation associated with chronic haemolytic anaemia and neurological dysfunction in a family from USA. (English)

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/16740138

author name string

Jonathan M Flanagan

1

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/16740138

Melissa Rhodes

2

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/16740138

Meredith Wilson

3

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/16740138

Ernest Beutler

4

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/16740138

language of work or name

0 references

publication date

1 June 2006

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/16740138

British Journal of Haematology

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/16740138

134

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/16740138

233-237

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/16740138

2

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/16740138

Nomenclature for the description of human sequence variations.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06143.X

21 January 2018

Role of phosphate chain mobility of MgATP in completing the 3-phosphoglycerate kinase catalytic site: binding, kinetic, and crystallographic studies with ATP and MgATP.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06143.X

21 January 2018

Human testis-specific PGK gene lacks introns and possesses characteristics of a processed gene

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06143.X

21 January 2018

A novel missense mutation (1060G --> C) in the phosphoglycerate kinase gene in a Japanese boy with chronic haemolytic anaemia, developmental delay and rhabdomyolysis

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06143.X

21 January 2018

The 1591C mutation in triosephosphate isomerase (TPI) deficiency. Tightly linked polymorphisms and a common haplotype in all known families

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06143.X

21 January 2018

Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06143.X

21 January 2018

Familial phosphoglycerate kinase deficiency associated with rhabdomyolysis and acute renal failure: abnormality in mRNA splicing?

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06143.X

21 January 2018

Mutations in the holocarboxylase synthetase gene HLCS.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06143.X

21 January 2018

Genetic diversity within the R408W phenylketonuria mutation lineages in Europe

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06143.X

21 January 2018

Correlation between conformational stability of the ternary enzyme-substrate complex and domain closure of 3-phosphoglycerate kinase.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06143.X

21 January 2018

A phylogenetic analysis based on the gene encoding phosphoglycerate kinase

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06143.X

21 January 2018

Genetic variants of ApoE account for variability of plasma low-density lipoprotein and apolipoprotein B levels in FHBL.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06143.X

21 January 2018

Identifiers

10.1111/J.1365-2141.2006.06143.X

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/16740138

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/16740138

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q52016288&oldid=1108008696"