R54C mutation of NOTCH3 gene in the first Rungus family with CADASIL

Cerebral autosomal dominant arteriopathy with subcortical infarcts andleukoencephalopathy (CADASIL) is a rare hereditary stroke caused by mutations in NOTCH3 gene.We report the first case of CADASIL in an indigenous Rungus(Kadazan-Dusun) family in Kudat, Sabah, Malaysia confirmed by a R54C (c.160C&g...

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Main Authors:	Lim, Kheng Seang, Ai-HueyTan, Lim, Chun Shen, Chua, Kek Heng, Lee, Ping Chin, Norlisah Ramli, Giri Shan Rajahram, Fatimah Tina Hussin, Kum, Thong Wong, Meenakshi Bhattacharjee, Ng, Ching Ching
Format:	Article
Language:	en en
Published:	Public Library Science 2015
Subjects:	QH Natural history
Online Access:	https://eprints.ums.edu.my/id/eprint/21418/1/R54C%20mutation%20of%20NOTCH3%20gene%20in%20the%20first%20Rungus%20family%20with%20CADASIL.pdf https://eprints.ums.edu.my/id/eprint/21418/7/R54C%20mutation%20of%20NOTCH3%20gene%20in%20the%20first%20Rungus%20family%20with%20CADASIL.pdf https://eprints.ums.edu.my/id/eprint/21418/ https://www.doi.org/10.1371/journal.pone.013547
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