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

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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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Autores principales:	Laurent R Chiarelli, Simone M Morera, Paola Bianchi, Elisa Fermo, Alberto Zanella, Alessandro Galizzi, Giovanna Valentini
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2012
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/d93d0e0dc7be47b7a472f97bea7ebc60
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

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