(Q52189707)

English

A novel missense mutation (837T-->C) in the phosphoglycerate kinase gene of a patient with a myopathic form of phosphoglycerate kinase deficiency.

scientific article published in February 1998

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

26 April 2018

http://europepmc.org/abstract/MED/9512313

A novel missense mutation (837T-->C) in the phosphoglycerate kinase gene of a patient with a myopathic form of phosphoglycerate kinase deficiency. (English)

1 reference

Europe PubMed Central

PubMed publication ID

26 April 2018

http://europepmc.org/abstract/MED/9512313

author name string

H Sugie

1

1 reference

Europe PubMed Central

PubMed publication ID

26 April 2018

http://europepmc.org/abstract/MED/9512313

Y Sugie

2

1 reference

Europe PubMed Central

PubMed publication ID

26 April 2018

http://europepmc.org/abstract/MED/9512313

M Ito

3

1 reference

Europe PubMed Central

PubMed publication ID

26 April 2018

http://europepmc.org/abstract/MED/9512313

T Fukuda

4

1 reference

Europe PubMed Central

PubMed publication ID

26 April 2018

http://europepmc.org/abstract/MED/9512313

publication date

1 February 1998

1 reference

Europe PubMed Central

PubMed publication ID

26 April 2018

http://europepmc.org/abstract/MED/9512313

Journal of Child Neurology

1 reference

Europe PubMed Central

PubMed publication ID

26 April 2018

http://europepmc.org/abstract/MED/9512313

13

1 reference

Europe PubMed Central

PubMed publication ID

26 April 2018

http://europepmc.org/abstract/MED/9512313

2

1 reference

Europe PubMed Central

PubMed publication ID

26 April 2018

http://europepmc.org/abstract/MED/9512313

95-97

1 reference

Europe PubMed Central

PubMed publication ID

26 April 2018

http://europepmc.org/abstract/MED/9512313

Isolation and DNA sequence of a full-length cDNA clone for human X chromosome-encoded phosphoglycerate kinase

1 reference

https://api.crossref.org/works/10.1177%2F088307389801300212

21 January 2018

Structure of the human phosphoglycerate kinase gene and the intron-mediated evolution and dispersal of the nucleotide-binding domain

1 reference

https://api.crossref.org/works/10.1177%2F088307389801300212

21 January 2018

Recurrent myoglobinuria in a child with mental retardation: phosphoglycerate kinase deficiency.

1 reference

https://api.crossref.org/works/10.1177%2F088307389801300212

21 January 2018

Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria.

1 reference

https://api.crossref.org/works/10.1177%2F088307389801300212

21 January 2018

Molecular abnormality of phosphoglycerate kinase-Uppsala associated with chronic nonspherocytic hemolytic anemia

1 reference

https://api.crossref.org/works/10.1177%2F088307389801300212

21 January 2018

Use of cultured lymphoblastoid cells for the study of abnormal enzymes: molecular abnormality of a phosphoglycerate kinase variant associated with hemolytic anemia

1 reference

https://api.crossref.org/works/10.1177%2F088307389801300212

21 January 2018

Structure of horse muscle phosphoglycerate kinase. Some results on the chain conformation, substrate binding and evolution of the molecule from a 3 angstrom Fourier map.

1 reference

https://api.crossref.org/works/10.1177%2F088307389801300212

21 January 2018

Sequence, structure and activity of phosphoglycerate kinase: a possible hinge-bending enzyme

1 reference

https://api.crossref.org/works/10.1177%2F088307389801300212

21 January 2018

Identifiers

10.1177/088307389801300212

1 reference

Europe PubMed Central

PubMed publication ID

26 April 2018

http://europepmc.org/abstract/MED/9512313

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

26 April 2018

http://europepmc.org/abstract/MED/9512313

ResearchGate publication ID

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