@article{oai:kanazawa-u.repo.nii.ac.jp:00014643,
 author = {Ishida, Chiho and Sakajiri, Ken-ichi and Yoshita, Mitsuhiro and Joutel, Anne and Cave-Riant, Florence and Yamada, Masahito},
 issue = {16},
 journal = {Internal Medicine},
 month = {Jan},
 note = {We 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., 金沢大学医薬保健研究域医学系},
 pages = {981--985},
 title = {CADASIL with a Novel Mutation in Exon 7 of NOTCH3 (C388Y)},
 volume = {45},
 year = {2006}
}