Mutations in CENPE define a novel kinetochore-centromeric mechanism for Microcephalic Primordial Dwarfism

Defects in centrosome, centrosomal-associated and spindle-associated proteins are the most frequent cause of Primary Microcephaly (PM) and Microcephalic Primordial Dwarfism (MPD) syndromes in humans. Mitotic progression and segregation defects, microtubule spindle abnormalities and impaired DNA dama...

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Publicado no:Hum Genet
Main Authors: Mirzaa, Ghayda M., Vitre, Benjamin, Carpenter, Gillian, Abramowicz, Iga, Gleeson, Joseph G., Paciorkowski, Alex R., Cleveland, Don W., Dobyns, William B., O’Driscoll, Mark
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4415612/
https://ncbi.nlm.nih.gov/pubmed/24748105
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-014-1443-3
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