A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: Molecular and functional characterization

Elisa Fermo, Paola Bianchi, Laurent R. Chiarelli, Maristella Maggi, Giuseppa Maria Luana Mandarà, Cristina Vercellati, Anna Paola Marcello, Wilma Barcellini, Agostino Cortelezzi, Giovanna Valentini,

Molecular Genetics and Metabolism · 2012 · 32 citations · 40 references

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