A novel missense mutation in CCDC88C activates the JNK...

Journal of Medical Genetics 2014 / 09 Vol. 51; Iss. 9

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

Tsoi, H., Yu, A. C. S., Chen, Z. S., Ng, N. K. N., Chan, A. Y. Y., Yuen, L. Y. P., Abrigo, J. M., Tsang, S. Y., Tsui, S. K. W., Tong, T. M. F., Lo, I. F. M., Lam, S. T. S., Mok, V. C. T., Wong, L. K.
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Volume:
51
Language:
english
Journal:
Journal of Medical Genetics
DOI:
10.1136/jmedgenet-2014-102333
Date:
September, 2014
File:
PDF, 1.27 MB
english, 2014
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