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Maria Claudia Montefusco
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Journal Articles

Thiamine Deprivation Induces Reticulocytopenic Anemia in Slc19A2 Knockout Marrow: Evidence for Cell-Intrinsic Defect.

Maria Claudia Montefusco, PhD, Judith C. Fleming, PhD, Gretchen Chick, Ellis J. Neufeld, MD, PhD
Journal: Blood
Blood (2005) 106 (11): 3604.
https://doi.org/10.1182/blood.V106.11.3604.3604
Published: 2005
Journal Articles

Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations

Maria Claudia Montefusco, Stefano Duga, Rosanna Asselta, Massimo Malcovati, Flora Peyvandi, Elena Santagostino, Pier Mannuccio Mannucci, Maria Luisa Tenchini
Journal: Blood
Blood (2003) 102 (9): 3210–3216.
https://doi.org/10.1182/blood-2003-03-0922
Published: 2003
Journal Articles

Arg2074Cys missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency: molecular characterization by expression of the recombinant protein

Stefano Duga, Maria Claudia Montefusco, Rosanna Asselta, Massimo Malcovati, Flora Peyvandi, Elena Santagostino, Pier Mannuccio Mannucci, Maria Luisa Tenchini
Journal: Blood
Blood (2003) 101 (1): 173–177.
https://doi.org/10.1182/blood-2002-06-1928
Published: 2003