Impact of thrombocytopenia-associated c.-118C>T and c.-140C>G ANKRD26 5’UTR variants in three-generational pedigree-Reference-Cited by-同舟云学术

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

Published:2024-08-30 Issue:1 Volume:35 Page:
ISSN:0953-7104
Container-title:Platelets
language:en
Short-container-title:Platelets

Author:

Trizuljak Jakub¹²³,Likavcová Paulína¹,Staňo Kozubík Kateřina¹²³,Vrzalová Zuzana²³,Hynšt Jakub³,Deissová Tereza³,Štika Jiří¹³,Radová Lenka³,Prudková Marie²⁴⁵,Vaculová Jana⁶,Blaháková Ivona²³,Smejkal Petr⁴⁵,Kamelander Jan⁴⁵,Pospíšilová Šárka¹²³,Doubek Michael¹²³^ORCID

Affiliation:

1. Institute of Medical Genetics and Genomics, University Hospital Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic

2. Department of Internal Medicine - Haematology and Oncology, University Hospital Brno and Faculty of Medicine, Masaryk University and ERN EuroBloodNet Centre, Brno, Czech Republic

3. Centre of Molecular Medicine, Central European Institute of Technology, Masaryk University, Brno, Czech Republic

4. Department of Clinical Haematology, University Hospital Brno, Masaryk University, Brno, Czech Republic

5. Department of Laboratory Methods, Faculty of Medicine, Masaryk University, Brno, Czech Republicand

6. Department of Clinical Haematology and Haematooncology, Hospital Havířov, Havířov, Czech Republic

Funder

Ministry of Health

Ministry of Education

Publisher

Informa UK Limited

Link

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

Reference19 articles.

1. Inherited thrombocytopenias

2. Genetics of familial forms of thrombocytopenia

3. Hereditary platelet disorders associated with germ line variants in RUNX1, ETV6, and ANKRD26

4. Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families

5. Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2