학술논문
Clinical characteristics and platelet phenotype in a family with RUNX1 mutated thrombocytopenia.
Document Type
Article
Author
Source
Subject
*THROMBOCYTOPENIA
*FLOW cytometry
*TRANSMISSION electron microscopes
*GENETIC mutation
*PHENOTYPES
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Language
ISSN
1042-8194
Abstract
The article presents a case study of a 29-year-old female with chronic thrombocytopenia. Topics discussed include flow cytometry and platelet transmission electron microscopy (PTEM) performed using clinically validated laboratory tests, germline heterozygous RUNX1 mutations causing autosomal dominant, and the clinical phenotype of patients with germline RUNX1 mutations found to be heterogeneous.