title: A new mutation in TUBB1 associated with thrombocytopenia confirms that C-terminal part of β1-tubulin plays a role in microtubule assembly.
authors.affiliation: CHU de Bordeaux, Laboratoire d'hématologie, Centre de Référence des Pathologies Plaquettaires, Pessac, France.
authors.forename: M
authors.initials: M
authors.lastname: Fiore
authors.affiliation: Université de Bordeaux, Bordeaux, France.
authors.forename: C
authors.initials: C
authors.lastname: Goulas
authors.affiliation: CHU de Bordeaux, Laboratoire d'hématologie, Centre de Référence des Pathologies Plaquettaires, Pessac, France.|Inserm U1034, Adaptation cardiovasculaire à l'ischémie, Pessac, France.
authors.forename: X
authors.initials: X
authors.lastname: Pillois
mesh_terms: D000328:Adult; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005260:Female; D005602:France; D015870:Gene Expression; D006801:Humans; D008870:Microtubules / Q000378:metabolism*; D011487:Protein Conformation; D054730:Protein Interaction Domains and Motifs; D013921:Thrombocytopenia / Q000235:genetics* / Q000378:metabolism; D014404:Tubulin / Q000235:genetics* / Q000378:metabolism
chemical_list: D018389:Codon, Nonsense; C578986:TUBB1 protein, human; D014404:Tubulin
keywords: TUBB1 gene; dominant-negative effect; macrothrombocytopenia; truncating mutation