Hereditary thrombocythemia due to splicing donor site mutation of THPO in a Japanese family
Author:
Publisher
Springer Science and Business Media LLC
Subject
Hematology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s00277-023-05523-9.pdf
Reference42 articles.
1. Kaushansky K (1998) Thrombopoietin. N Engl J Med 339(11):746–754. https://doi.org/10.1056/NEJM199809103391107
2. Kaushansky K (2006) Lineage-specific hematopoietic growth factors. N Engl J Med 354(19):2034–2045. https://doi.org/10.1056/NEJMra052706
3. Harrison CN, Gale RE, Wiestner AC, Skoda RC, Linch DC (1998) The activating splice mutation in intron 3 of the thrombopoietin gene is not found in patients with non-familial essential thrombocythaemia. Br J Haematol 102(5):1341–1343
4. Wiestner A, Schlemper RJ, van der Maas AP, Skoda RC (1998) An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia. Nat Genet 18(1):49–52. https://doi.org/10.1038/ng0198-49
5. Kondo T, Okabe M, Sanada M, Kurosawa M, Suzuki S, Kobayashi M, Hosokawa M, Asaka M (1998) Familial essential thrombocythemia associated with one-base deletion in the 5’-untranslated region of the thrombopoietin gene. Blood 92(4):1091–1096
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1. Relative impact of THPO mutation causing hereditary thrombocythemia;Experimental Hematology;2024-06
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