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Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASIL

CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is caused by mutations in the NOTCH3 gene, affecting the number of cysteines in the extracellular domain of the receptor, causing protein misfolding and receptor aggregation. The pathogenic role of c...

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Bibliografski detalji
Izdano u:Int J Mol Sci
Glavni autori: Muiño, Elena, Gallego-Fabrega, Cristina, Cullell, Natalia, Carrera, Caty, Torres, Nuria, Krupinski, Jurek, Roquer, Jaume, Montaner, Joan, Fernández-Cadenas, Israel
Format: Artigo
Jezik:Inglês
Izdano: MDPI 2017
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5618613/
https://ncbi.nlm.nih.gov/pubmed/28902129
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms18091964
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