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Impact of thrombocytopenia-associated c.-118C>T and c.-140C>G ANKRD26 5'UTR variants in three-generational pedigree.

Platelets - 1 Dec 2024

Trizuljak Jakub, Likavcová Paulína, Staňo Kozubík Kateřina, Vrzalová Zuzana, Hynšt Jakub, Deissová Tereza, Štika Jiří, Radová Lenka, Prudková Marie, Vaculová Jana, Blaháková Ivona, Smejkal Petr, Kamelander Jan, Pospíšilová Šárka, Doubek Michael

Abstract excerpt

Inherited thrombocytopenias (ITs) encompass a group of rare disorders characterized by diminished platelet count. Recent advancements have unveiled various forms of IT, with inherited thrombocytopenia 2 (THC2) emerging as a prevalent subtype associated with germline variants in the critical 5' untranslated region of the ANKRD26 gene. This region is crucial in regulating the gene expression of ANKRD26,...

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PMID: 39212265
DOI: 10.1080/09537104.2024.2388103

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