Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency.

Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency.

Phosphoglycerate kinase (PGK) catalyzes an important ATP-generating step in glycolysis. PGK1 deficiency is an uncommon X-linked inherited disorder, generally characterized by various combinations of non-spherocytic hemolytic anemia, neurological dysfunctions, and myopathies. Patients rarely exhibit...

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Bibliographic Details
Main Authors: Laurent R Chiarelli, Simone M Morera, Paola Bianchi, Elisa Fermo, Alberto Zanella, Alessandro Galizzi, Giovanna Valentini
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS ONE
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22348148/?tool=EBI

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https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22348148/?tool=EBI

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