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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Int J Mol Sci
Päätekijät: Muiño, Elena, Gallego-Fabrega, Cristina, Cullell, Natalia, Carrera, Caty, Torres, Nuria, Krupinski, Jurek, Roquer, Jaume, Montaner, Joan, Fernández-Cadenas, Israel
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: MDPI 2017
Aiheet:
Review
Linkit: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
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia