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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3279470/ https://www.ncbi.nlm.nih.gov/pubmed/22348148 http://dx.doi.org/10.1371/journal.pone.0032065 |