Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion...
Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASIL
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Publisher
Switzerland: MDPI AG
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Language
English
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Publisher
Switzerland: MDPI AG
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Contents
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is caused by mutations in the
gene, affecting the number of cysteines in the extracellular domain of the receptor, causing protein misfolding and receptor aggregation. The pathogenic role of cysteine-sparing
missense mutations in patients with...
Alternative Titles
Full title
Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASIL
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5618613
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5618613
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ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms18091964
