Evidence for a founder effect of the MPL-S505N mutation in eight Italian pedigrees with hereditary thrombocythemia

Evidence 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...

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Bibliographic Details
Main Authors: Kun Liu, Maurizio Martini, Bianca Rocca, Christopher I. Amos, Luciana Teofili, Fiorina Giona, Jianmin Ding, Hirokazu Komatsu, Luigi M. Larocca, Radek C. Skoda
Format: Article
Language:English
Published: Ferrata Storti Foundation 2009-10-01
Series:Haematologica
Online Access:https://haematologica.org/article/view/5372

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https://haematologica.org/article/view/5372

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