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Article

Characterization of the Platelet Phenotype Caused by a Germline RUNX1 Variant in a CRISPR/Cas9-Generated Murine Model.

Thrombosis and haemostasis - 1 Sept 2021

Marín-Quílez Ana, García-Tuñón Ignacio, Fernández-Infante Cristina, Hernández-Cano Luis, Palma-Barqueros Verónica, Vuelta Elena, Sánchez-Martín Manuel, González-Porras José Ramón, Guerrero Carmen, Benito Rocío, Rivera José, Hernández-Rivas Jesús María, Bastida José María

Abstract excerpt

RUNX1-related disorder (RUNX1-RD) is caused by germline variants affecting the RUNX1 gene. This rare, heterogeneous disorder has no specific clinical or laboratory phenotype, making genetic diagnosis necessary. Although international recommendations have been established to classify the pathogenicity of variants, identifying the causative alteration remains a challenge in RUNX1-RD. Murine models may be useful not...

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PMID: 33626581
DOI: 10.1055/s-0041-1723987

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