Sfoglia per Soggetto "NIRCA"
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Analysis of SLC40A1 gene at the mRNA level reveals rapidly the causative mutations in patients with hereditary hemochromatosis type IV
(2008)Mutations in the SLC40Al gene result in a dominant genetic disorder [ferroportin disease; hereditary hemochromatosis type (HH) IV], characterized by iron overload with two different clinical manifestations, normal transferrin ... -
Fast and reliable mutation detection of the complete exon 11-15 JAK2 coding region using non-isotopic RNase cleavage assay (NIRCA)
(2009)The screening for JAK2 V617F mutation in patients with polycythemia vera, essential thrombocythemia, and idiopathic myelofibrosis offers crucial information for the final diagnosis of these disorders. Recently, several ...