Top-NOTCH3 Variants in the Population at Large
نویسندگان
چکیده
منابع مشابه
NOTCH3 Variants and Risk of Ischemic Stroke
BACKGROUND Mutations within the NOTCH3 gene cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). CADASIL mutations appear to be restricted to the first twenty-four exons, resulting in the gain or loss of a cysteine amino acid. The role of other exonic NOTCH3 variation not involving cysteine residues and mutations in exons 25-33 in ischemic ...
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BACKGROUND AND PURPOSE The most common monogenic cause of cerebral small-vessel disease is cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, caused by NOTCH3 gene mutations. It has been hypothesized that more common variants in NOTCH3 may also contribute to the risk of sporadic small-vessel disease. Previously, 4 common variants (rs10404382, rs1043994, ...
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ژورنال
عنوان ژورنال: Stroke
سال: 2020
ISSN: 0039-2499,1524-4628
DOI: 10.1161/strokeaha.120.031609