A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia

BACKGROUND: Spinocerebellar ataxias (SCAs) are a group of clinically and genetically diverse and autosomal-dominant disorders characterised by neurological deficits in the cerebellum. At present, there is no cure for SCAs. Of the different distinct subtypes of autosomal-dominant SCAs identified to d...

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Detalles Bibliográficos
Autores principales: Tsoi, Ho, Yu, Allen C S, Chen, Zhefan S, Ng, Nelson K N, Chan, Anne Y Y, Yuen, Liz Y P, Abrigo, Jill M, Tsang, Suk Ying, Tsui, Stephen K W, Tong, Tony M F, Lo, Ivan F M, Lam, Stephen T S, Mok, Vincent C T, Wong, Lawrence K S, Ngo, Jacky C K, Lau, Kwok-Fai, Chan, Ting-Fung, Chan, H Y Edwin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2014
Materias:
Phenotypes
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4145425/
https://www.ncbi.nlm.nih.gov/pubmed/25062847
http://dx.doi.org/10.1136/jmedgenet-2014-102333

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