Article
Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene.
British journal of haematology - 1 Jan 2009
El-Harith El-Harith Abdelghaffar, Roesl Cornelia, Ballmaier Matthias, Germeshausen Manuela, Frye-Boukhriss Hildegard, von Neuhoff Nils, Becker Christian, Nürnberg Gudrun, Nürnberg Peter, Ahmed Mirghani Ali Mohamed, Hübener Jeannette, Schmidtke Jörg, Welte Karl, Stuhrmann Manfred
Abstract excerpt
Familial thrombosis (FT) has been described as a rare autosomal-dominant disorder, mostly caused by activating mutations of the thrombopoietin gene (THPO). Other cases of FT have been linked to one of two different germline mutations in the myeloproliferative leukaemia virus oncogene gene (MPL), which codes for the thrombopoietin receptor MPL. We studied an Arab family with two siblings with severe thrombocytosis...
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