Mutations in the most divergent α-tubulin isotype, α8-tubulin, cause defective platelet biogenesis.
Quentin KimmerlinArnaud DupuisSatish BodakuntlaClaire WeberVéronique HeimVéronique HenriotSylvie MoogAnita EcklyPaul GuéguenClaude FerecChristian GachetCarsten JankeFrançois LanzaPublished in: Journal of thrombosis and haemostasis : JTH (2021)
This study provides strong support for a key role of multiple tubulin genes in platelet biogenesis by discovering variants in a tubulin gene that was previously not known to be important for platelets.