Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes

Mutations in alpha- and beta-tubulins are increasingly recognized as a major cause of malformations of cortical development (MCD), typically lissencephaly, pachygyria and polymicrogyria; however, sequencing tubulin genes in large cohorts of MCD patients has detected tubulin mutations in only 1–13%....

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Veröffentlicht in:Hum Mol Genet
Hauptverfasser: Oegema, Renske, Cushion, Thomas D., Phelps, Ian G., Chung, Seo-Kyung, Dempsey, Jennifer C., Collins, Sarah, Mullins, Jonathan G.L., Dudding, Tracy, Gill, Harinder, Green, Andrew J., Dobyns, William B., Ishak, Gisele E., Rees, Mark I., Doherty, Dan
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2015
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Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4550818/
https://ncbi.nlm.nih.gov/pubmed/26130693
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv250
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