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Autore Titolo Tipo [ Anno(Asc)]
Filtri: Autore è Savoia, Anna and First Letter Of Title is G  [Clear All Filters]
2017
Bottega R, Nicchia E, Alfano C, Glembotsky AC, Pastore A, Bertaggia-Calderara D, Bisig B, Duchosal MA, Arbesú G, Alberio L, Heller PG, Savoia A. Gray platelet syndrome: Novel mutations of the NBEAL2 gene. Am J Hematol 2017;92(2):E20-E22.
2015
Noetzli L, Lo RW, Lee-Sherick AB, Callaghan M, Noris P, Savoia A, Rajpurkar M, Jones K, Gowan K, Balduini CL, Pecci A, Gnan C, De Rocco D, Doubek M, Li L, Lu L, Leung R, Landolt-Marticorena C, Hunger S, Heller P, Gutierrez-Hartmann A, Xiayuan L, Pluthero FG, Rowley JW, Weyrich AS, Kahr WHA, Porter CC, Di Paola J. Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia. Nat Genet 2015;47(5):535-8.
2010
Vettore S, De Rocco D, Gerber B, Scandellari R, Bianco AMonica, Balduini CL, Pecci A, Fabris F, Savoia A. A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defect. Eur J Med Genet 2010;53(5):256-60.

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