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Pathogenic mutations in the chromokinesin KIF22 disrupt anaphase chromosome segregation

The chromokinesin KIF22 generates forces that contribute to mitotic chromosome congression and alignment. Mutations in the α2 helix of the motor domain of KIF22 have been identified in patients with abnormal skeletal development, and we report the identification of a patient with a novel mutation in...

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Detalles Bibliográficos
Autores principales: Thompson, Alex F, Blackburn, Patrick R, Arons, Noah S, Stevens, Sarah N, Babovic-Vuksanovic, Dusica, Lian, Jane B, Klee, Eric W, Stumpff, Jason
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9302971/
https://www.ncbi.nlm.nih.gov/pubmed/35730929
http://dx.doi.org/10.7554/eLife.78653