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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Bibliografski detalji
Izdano u:Hum Genet
Glavni autori: Mirzaa, Ghayda M., Vitre, Benjamin, Carpenter, Gillian, Abramowicz, Iga, Gleeson, Joseph G., Paciorkowski, Alex R., Cleveland, Don W., Dobyns, William B., O’Driscoll, Mark
Format: Artigo
Jezik:Inglês
Izdano: 2014
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Article
Online pristup: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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