Thrombocythemia 1 With THPO Variant (c.13+1G>A) Diagnosed Using Targeted Exome Sequencing: First Case in Korea
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DOI: 10.3343/alm.2020.40.4.341
Abstract: Dear Editor, Hereditary thrombocythemia is a very rare autosomal dominant disorder associated with polyclonal hematopoiesis of the megakaryocytic lineage [1, 2]. Thrombocythemia 1 (THCYT1), caused by THPO variant, has been reported in Dutch [3, 4],… read more here.
Keywords: thpo variant; first case; thrombocythemia; count ... See more keywords