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