Article
In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis.
Blood - 15 Feb 2002
Michaud Joëlle, Wu Feng, Osato Motomi, Cottles Gregory M, Yanagida Masatoshi, Asou Norio, Shigesada Katsuya, Ito Yoshiaki, Benson Kathleen F, Raskind Wendy H, Rossier Colette, Antonarakis Stylianos E, Israels Sara, McNicol Archie, Weiss Harvey, Horwitz Marshall, Scott Hamish S
Abstract excerpt
Familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML) is an autosomal dominant familial platelet disorder characterized by thrombocytopenia and a propensity to develop AML. Mutation analyses of RUNX1 in 3 families with FPD/AML showing linkage to chromosome 21q22.1 revealed 3 novel heterozygous point mutations (K83E, R135fsX177 (IVS4 + 3delA), and Y260X). Functional investigations...
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