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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...

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Detalles Bibliográficos
Autores principales:	Chiarelli, Laurent R., Morera, Simone M., Bianchi, Paola, Fermo, Elisa, Zanella, Alberto, Galizzi, Alessandro, Valentini, Giovanna
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2012
Materias:	Research Article
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

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