Intellectual disability without epilepsy associated with STXBP1 disruption

STXBP1 (Munc18-1) is a component of the machinery involved in the fusion of secretory vesicles to the presynaptic membrane for the release of neurotransmitters. De novo missense mutations in STXBP1 were recently reported in patients with Ohtahara syndrome, a form of encephalopathy with severe early-...

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Detaylı Bibliyografya
Asıl Yazarlar: Hamdan, Fadi F, Gauthier, Julie, Dobrzeniecka, Sylvia, Lortie, Anne, Mottron, Laurent, Vanasse, Michel, D'Anjou, Guy, Lacaille, Jean Claude, Rouleau, Guy A, Michaud, Jacques L
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2011
Konular:
Short Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3083607/
https://ncbi.nlm.nih.gov/pubmed/21364700
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.183
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