Article
Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing.
International journal of laboratory hematology - 1 Dec 2016
Del Orbe Barreto R, Arrizabalaga B, De la Hoz A B, García-Orad Á, Tejada M I, Garcia-Ruiz J C, Fidalgo T, Bento C, Manco L, Ribeiro M L
Abstract excerpt
INTRODUCTION: Congenital haemolytic anaemia (CHA) refers to a group of genetically heterogeneous disorders, mainly caused by changes in genes encoding globin chains, cytoskeletal proteins and red cell enzymes, in which accurate diagnosis can be challenging with conventional techniques. METHODS: To set-up a comprehensive assay for detecting mutations that could improve aetiological diagnosis, we designed a custom...
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