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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Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: 2014
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Article
Online adgang: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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