A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: Molecular and functional characterization
Elisa Fermo(Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico), Alberto Zanella(University of Milan), Wilma Barcellini(Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico), Anna Paola Marcello(Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico), Giovanna Valentini(University of Pavia), Paola Bianchi(University of Pavia), Agostino Cortelezzi(Istituti di Ricovero e Cura a Carattere Scientifico), Laurent R. Chiarelli(University of Pavia), Giuseppa Maria Luana Mandarà, Maristella Maggi(University of Pavia), Cristina Vercellati(Ospedale Maggiore)
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