Genetic Studies of Hereditary Thrombocythemia
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چکیده
منابع مشابه
A de novo splice donor mutation in the thrombopoietin gene causes hereditary thrombocythemia in a Polish family.
BACKGROUND Hereditary thrombocythemia is an autosomal dominant disorder with clinical features resembling sporadic essential thrombocythemia. Germline mutations in families with hereditary thrombocythemia have been identified in the gene for thrombopoietin (TPHO) and its receptor, MPL. DESIGN AND METHODS Here we characterized a THPO mutation in a hereditary thrombocythemia pedigree with 11 af...
متن کاملEvidence for a founder effect of the MPL-S505N mutation in eight Italian pedigrees with hereditary thrombocythemia.
BACKGROUND Hereditary thrombocythemia is a rare disease characterized by increased megakaryopoiesis and overproduction of platelets. Germ line mutations have been identified in the genes for thrombopoietin (THPO) and its receptor, MPL. A clustering of familial cases with the MPL-G1073A mutation that results in a serine to asparagine substitution (S505N) has been recently reported in Italy. Here...
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