Article
Loss of Dynamin 2 GTPase function results in microcytic anaemia.
British journal of haematology - 1 Aug 2017
Brown Fiona C, Collett Michael, Tremblay Cedric S, Rank Gerhard, De Camilli Pietro, Booth Carmen J, Bitoun Marc, Robinson Phillip J, Kile Benjamin T, Jane Stephen M, Curtis David J
Abstract excerpt
In a dominant mouse ethylnitrosurea mutagenesis screen for genes regulating erythropoiesis, we identified a pedigree with a novel microcytic hypochromia caused by a V235G missense mutation in Dynamin 2 (Dnm2). Mutations in Dnm2, a GTPase, are highly disease-specific and have been implicated in four forms of human diseases: centronuclear myopathy, Charcot-Marie Tooth neuropathy and, more recently, T-cell leukaemia...
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