Browsing Ciències de la Salut by Author "Quesada, Victor"
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Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms
Ramsay, Andrew J.; Quesada, Victor; Sanchez, Mayka; Garabaya, Cecilia; Sardà, María P.; Baiget, Montserrat; Remacha, Angel; Velasco, Gloria; López-Otín, Carlos (Human Molecular Genetics, 2009)Mutations leading to abrogation of matriptase-2 proteolytic activity in humans are associated with an iron-refractory iron deficiency anemia (IRIDA) due to elevated hepcidin levels. Here we describe two ...