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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 Lanza
Published 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.
Keyphrases
  • copy number
  • genome wide
  • genome wide identification
  • transcription factor