Mutations in KCND3 cause spinocerebellar ataxia type 22

OBJECTIVE: To identify the causative gene in SCA22, an autosomal dominant cerebellar ataxia mapped to chromosome 1p21-q23. SUBJECTS AND METHODS: We previously characterized a large Chinese family with progressive ataxia designated SCA22, which overlaps with the locus of SCA19. The disease locus in a...

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Autors principals: Lee, Yi-chung, Durr, Alexandra, Majczenko, Karen, Huang, Yen-hua, Liu, Yu-chao, Lien, Cheng-chang, Tsai, Pei-chien, Ichikawa, Yaeko, Goto, Jun, Monin, Marie-Lorraine, Li, Jun Z., Chung, Ming-yi, Mundwiller, Emeline, Shakkottai, Vikram, Liu, Tze-tze, Tesson, Christelle, Lu, Yi-chun, Brice, Alexis, Tsuji, Shoji, Burmeister, Margit, Stevanin, Giovanni, Soong, Bing-wen
Format: Artigo
Idioma:Inglês
Publicat: 2012
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4085146/
https://ncbi.nlm.nih.gov/pubmed/23280837
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.23701
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