R54C Mutation of NOTCH3 Gene in the First Rungus Family with CADASIL

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (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.160...

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Publicat a:PLoS One
Autors principals: Lim, Kheng-Seang, Tan, Ai-Huey, Lim, Chun-Shen, Chua, Kek-Heng, Lee, Ping-Chin, Ramli, Norlisah, Rajahram, Giri Shan, Hussin, Fatimah Tina, Wong, Kum-Thong, Bhattacharjee, Meenakshi B., Ng, Ching-Ching
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2015
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4535948/
https://ncbi.nlm.nih.gov/pubmed/26270344
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0135470
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