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Journal Articles

Molecular characterization of the First Italian Variant of Phosphoglycerate Kinase Deficiency

Paola Bianchi, M Sc, Elisa Fermo, M Sc, Luana Mandarà€, M.D., Cristina Vercellati, PhD, Anna Paola Maria Luisa Marcello, PhD, Agostino Cortelezzi, MD, Wilma Barcellini, MD, Alberto Zanella, M.D.
Journal: Blood
Blood (2011) 118 (21): 5270.
https://doi.org/10.1182/blood.V118.21.5270.5270
Published: 2011
Journal Articles

Investigating the Molecular Bases of the Phosphoglycerate Kinase Deficiency: Characterization of G158V, R206P, V266M and D285V Pathological Variants.

Simone Morera, Laurent Chiarelli, Paola Bianchi, Elisa Fermo, Alberto Zanella, Giovanna Valentini
Journal: Blood
Blood (2009) 114 (22): 3016.
https://doi.org/10.1182/blood.V114.22.3016.3016
Published: 2009
Journal Articles

Phosphoglycerate Kinase Deficiency: Characterization of the Wild-Type Enzyme and Three Pathological Variants Generated from C.140T>a, C.491A>T and C.959G>a Mutations

Simone Morera, Laurent Chiarelli, Stefano Rovida, Paola Bianchi, Elisa Fermo, Alessandro Galizzi, Alberto Zanella, M.D., Giovanna Valentini
Journal: Blood
Blood (2008) 112 (11): 2875.
https://doi.org/10.1182/blood.V112.11.2875.2875
Published: 2008