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- W2803232248 abstract "A 50-year-old man with a family history of stroke and depression slowly developed brain lesions. Magnetic resonance imaging revealed hyperintense lesions in the diffuse white matter, external capsules, and temporal poles on T2-weighted imaging. A heterozygous mutation c.3879C>G in exon 24 of the NOTCH3 gene (p.Cys1293Trp) was detected, confirming a diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Exon 24 mutations are rather rare and this represents the first Japanese case of CADASIL." @default.
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- W2803232248 date "2018-10-15" @default.
- W2803232248 modified "2023-09-24" @default.
- W2803232248 title "A Japanese Case of CADASIL with a Rare Mutation in Exon 24 of the <i>NOTCH3</i> Gene" @default.
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- W2803232248 doi "https://doi.org/10.2169/internalmedicine.0723-17" @default.
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