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A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: molecular and functional characterization.
Fermo E, Bianchi P, Chiarelli LR, Maggi M, Mandarà GM, Vercellati C, Marcello AP, Barcellini W, Cortelezzi A, Valentini G, Zanella A.
Mol Genet Metab. 2012 Aug;106(4):455-61. doi: 10.1016/j.ymgme.2012.05.015. Epub 2012 May 30.
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