Article
Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms.
Human molecular genetics - 1 Oct 2009
Ramsay Andrew J, Quesada Victor, Sanchez Mayka, Garabaya Cecilia, Sardà María P, Baiget Montserrat, Remacha Angel, Velasco Gloria, López-Otín Carlos
Abstract excerpt
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 novel heterozygous mutations within the matriptase-2 (TMPRSS6) gene of monozygotic twin girls exhibiting an IRIDA phenotype. The first is the frameshift mutation (P686fs) caused by the insertion of the four...
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