A new mutation in TUBB1 associated with thrombocytopenia confirms that C-terminal part of β1-tubulin plays a role in microtubule assembly

Clin Genet. 2017 Jun;91(6):924-926. doi: 10.1111/cge.12879. Epub 2016 Nov 30.

Authors

M Fiore¹, C Goulas², X Pillois^{1

3}

Affiliations

¹ CHU de Bordeaux, Laboratoire d'hématologie, Centre de Référence des Pathologies Plaquettaires, Pessac, France.
² Université de Bordeaux, Bordeaux, France.
³ Inserm U1034, Adaptation cardiovasculaire à l'ischémie, Pessac, France.

PMID: 27905099
DOI: 10.1111/cge.12879

No abstract available

Keywords: TUBB1 gene; dominant-negative effect; macrothrombocytopenia; truncating mutation.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Codon, Nonsense*
DNA Mutational Analysis
Female
France
Gene Expression
Humans
Microtubules / metabolism*
Protein Conformation
Protein Interaction Domains and Motifs*
Thrombocytopenia / genetics*
Thrombocytopenia / metabolism
Tubulin / genetics*
Tubulin / metabolism

Substances

Codon, Nonsense
TUBB1 protein, human
Tubulin