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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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| Vydáno v: | Hum Genet |
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| Hlavní autoři: | , , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2014
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| Témata: | |
| On-line přístup: | 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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