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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| Autors principals: | , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Public Library of Science (PLoS)
2012-01-01
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| Col·lecció: | PLoS ONE |
| Accés en línia: | https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22348148/?tool=EBI |
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