Article
Two Japanese CADASIL families exhibiting Notch3 mutation R75P not involving cysteine residue.
Internal medicine (Tokyo, Japan) - 1 Jan 2008
Mizuno Toshiki, Muranishi Manabu, Torugun Torusunjian, Tango Hiromi, Nagakane Yoshinari, Kudeken Tukasa, Kawase Yuji, Kawabe Kiyokazu, Oshima Fumiko, Yaoi Takeshi, Itoh Kyoko, Fushiki Shinji, Nakagawa Masanori
Abstract excerpt
Most previously reported mutations in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) result in an odd number of cysteine residues within the epidermal growth factor (EGF)-like repeats in Notch3. We report here R75P mutation in two Japanese CADASIL families not directly involving cysteine residues located within the first EGF-like repeats. Probands in both...
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