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Thrombocythemia 1 With THPO Variant (c.13+1G>A) Diagnosed Using Targeted Exome Sequencing: First Case in Korea

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참고문헌 (10)

  1. Graziano C, "Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation", Blood, 114, pp.1655~1657 (2009)
  2. 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)
  3. Schlemper RJ, "Familial essential thrombocythemia : clinical characteristics of 11 cases in one family", Ann Hematol, 68, pp.153~158 (1994)
  4. Wiestner A, "An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia", Nat Genet, 18, pp.49~52 (1998)
  5. 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)
  6. 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)
  7. 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)
  8. 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)
  9. Hitchcock IS, "Thrombopoietin from beginning to end", Br J Haematol, 165, pp.259~268 (2014)
  10. Kuter DJ, "The biology of thrombopoietin and thrombopoietin receptor agonists", Int J Hematol, 98, pp.10~23 (2013)

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