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It quickly become apparent that many inherited thrombocytopenias are syndromic while others are linked to an increased risk of hematological malignancies. The application the last 10 years of Next Generation Sequencing (NGS) including whole exome sequencing and the use of gene platforms for rapid testing has greatly accelerated the number of causal genes as well as extending the list of variants in more common disorders. Genes linked to an increased platelet turnover and apoptosis have also been identified. The current challenges are no