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

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

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’ untra...

Full description

Saved in:
Bibliographic Details
Main Authors: Jakub Trizuljak, Paulína Likavcová, Kateřina Staňo Kozubík, Zuzana Vrzalová, Jakub Hynšt, Tereza Deissová, Jiří Štika, Lenka Radová, Marie Prudková, Jana Vaculová, Ivona Blaháková, Petr Smejkal, Jan Kamelander, Šárka Pospíšilová, Michael Doubek
Format: Article
Language:English
Published: Taylor & Francis Group 2024-12-01
Series:Platelets
Subjects:
ANKRD26 gene
functional analysis
Inherited thrombocytopenia
platelet aggregation
platelets
Online Access:https://www.tandfonline.com/doi/10.1080/09537104.2024.2388103
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

https://www.tandfonline.com/doi/10.1080/09537104.2024.2388103

Similar Items