Clinical utility gene card for: Hereditary thrombocythemia

[1] MPL mutations in myeloproliferative disorders:: analysis of the PT-1 cohort [J]. BLOOD, 2008, 112 (01) : 141 - 149

[2] Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders [J]. BLOOD, 2006, 108 (01) : 346 - 352

[3] Detection of the single hotspot mutation in the JH2 pseuclokinase domain of janus kinase 2 in bone marrow trephine biopsies derived from chronic myeloproliferative disorders [J]. JOURNAL OF MOLECULAR DIAGNOSTICS, 2006, 8 (02) : 170 - 177

[4] Cohen N, 1997, CLIN GENET, V52, P47

[5] Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin [J]. BLOOD, 2004, 103 (11) : 4198 - 4200

[6] Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene [J]. BRITISH JOURNAL OF HAEMATOLOGY, 2009, 144 (02) : 185 - 194

[7] Hereditary thrombocythaemia in a Japanese family is caused by a novel point mutation in the thrombopoietin gene [J]. BRITISH JOURNAL OF HAEMATOLOGY, 1999, 107 (02) : 310 - 316

[8] Acquired von Willebrand syndrome type 2A in a JAK2-positive essential thrombocythaemia-affected member of a large von Willebrand disease family with a novel autosomal dominant A1716P mutation [J]. THROMBOSIS AND HAEMOSTASIS, 2011, 105 (05) : 921 - 924

[9] Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation [J]. BLOOD, 2009, 114 (08) : 1655 - 1657

[10] Familial polycythemia vera with non-germ line JAK2V617F mutation sparing the abnormal and clonal granulopoiesis [J]. LEUKEMIA, 2007, 21 (12) : 2566 - 2568

[1] MPL mutations in myeloproliferative disorders:: analysis of the PT-1 cohort [J]. BLOOD, 2008, 112 (01) : 141 - 149

[2] Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders [J]. BLOOD, 2006, 108 (01) : 346 - 352

[3] Detection of the single hotspot mutation in the JH2 pseuclokinase domain of janus kinase 2 in bone marrow trephine biopsies derived from chronic myeloproliferative disorders [J]. JOURNAL OF MOLECULAR DIAGNOSTICS, 2006, 8 (02) : 170 - 177

[4] Cohen N, 1997, CLIN GENET, V52, P47

[5] Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin [J]. BLOOD, 2004, 103 (11) : 4198 - 4200

[6] Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene [J]. BRITISH JOURNAL OF HAEMATOLOGY, 2009, 144 (02) : 185 - 194

[7] Hereditary thrombocythaemia in a Japanese family is caused by a novel point mutation in the thrombopoietin gene [J]. BRITISH JOURNAL OF HAEMATOLOGY, 1999, 107 (02) : 310 - 316

[8] Acquired von Willebrand syndrome type 2A in a JAK2-positive essential thrombocythaemia-affected member of a large von Willebrand disease family with a novel autosomal dominant A1716P mutation [J]. THROMBOSIS AND HAEMOSTASIS, 2011, 105 (05) : 921 - 924

[9] Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation [J]. BLOOD, 2009, 114 (08) : 1655 - 1657

[10] Familial polycythemia vera with non-germ line JAK2V617F mutation sparing the abnormal and clonal granulopoiesis [J]. LEUKEMIA, 2007, 21 (12) : 2566 - 2568