논문KCI 등재
Thrombocythemia 1 With THPO Variant (c.13+1G>A) Diagnosed Using Targeted Exome Sequencing: First Case in Korea
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참고문헌 (10)
- Graziano C, "Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation", Blood, 114, pp.1655~1657 (2009)
- Zhang B, "A novel splice donor mutation in the thrombopoietin gene leads to exon 2 skipping in a Filipino family with hereditary thrombocythemia", Blood, 118, pp.6988~6990 (2011)
- Schlemper RJ, "Familial essential thrombocythemia : clinical characteristics of 11 cases in one family", Ann Hematol, 68, pp.153~158 (1994)
- Wiestner A, "An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia", Nat Genet, 18, pp.49~52 (1998)
- Kondo T, "Familial essential thrombocythemia associated with one-base deletion in the 5’-untranslated region of the thrombopoietin gene", Blood, 92, pp.1091~1096 (1998)
- Ghilardi N, "Hereditary thrombocythaemia in a Japanese family is caused by a novel point mutation in the thrombopoietin gene", Br J Haematol, 107, pp.310~316 (1999)
- Liu K, "A de novo splice donor mutation in the thrombopoietin gene causes hereditary thrombocythemia in a Polish family", Haematologica, 93, pp.706~714 (2008)
- Stockklausner C, "Hereditary thrombocythemia caused by a thrombopoietin (THPO) gain-of-function mutation associated with multiple myeloma and congenital limb defects", Ann Hematol, 91, pp.1129~1133 (2012)
- Hitchcock IS, "Thrombopoietin from beginning to end", Br J Haematol, 165, pp.259~268 (2014)
- Kuter DJ, "The biology of thrombopoietin and thrombopoietin receptor agonists", Int J Hematol, 98, pp.10~23 (2013)
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