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- Chiho Ishida, Ken-ichi Sakajiri, Mitsuhiro Yoshita, Anne Joutel, Florence Cave-Riant, and Masahito Yamada.
- Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, Kanazawa.
- Intern. Med. 2006 Jan 1; 45 (16): 981985981-5.
AbstractWe report a 38-year-old Japanese woman who had cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with a novel mutation (TGT to TAT) at nucleotide position 1241 (C388Y) in exon 7 of the Notch3 gene (NOTCH3). Immunostaining of a skin biopsy with a Notch3 monoclonal antibody is a beneficial method for the screening of CADASIL, particularly in the case of rare mutations outside the mutation hotspots in NOTCH3 as shown in this patient.
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