Article
Molecular diagnostics of the HBB gene in an Omani cohort using bench-top DNA Ion Torrent PGM technology.
Blood cells, molecules & diseases - 1 Sept 2014
Hassan S M, Vossen R H A M, Chessa R, den Dunnen J T, Bakker E, Giordano P C, Harteveld C L
Abstract excerpt
Hemoglobinopathies, such as sickle cell disease (SCD) and beta-thalassemia major (TM), are severe diseases and the most common autosomal recessive condition worldwide and in particular in Oman. Early screening and diagnosis of carriers are the key for primary prevention. Once a country-wide population screening program is mandated by law, a sequencing technology that can rapidly confirm or identify...
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