Missense Mutations in the Regulatory Domain of PKCγ: A New Mechanism for Dominant Nonepisodic Cerebellar Ataxia

We report a nonepisodic autosomal dominant (AD) spinocerebellar ataxia (SCA) not caused by a nucleotide repeat expansion that is, to our knowledge, the first such SCA. The AD SCAs currently comprise a group of ⩾16 genetically distinct neurodegenerative conditions, all characterized by progressive in...

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Detalhes bibliográficos
Main Authors: Chen, Dong-Hui, Brkanac, Zoran, Verlinde, Christophe L. M. J., Tan, Xiao-Jian, Bylenok, Laura, Nochlin, David, Matsushita, Mark, Lipe, Hillary, Wolff, John, Fernandez, Magali, Cimino, P. J., Bird, Thomas D., Raskind, Wendy H.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2003
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180348/
https://ncbi.nlm.nih.gov/pubmed/12644968
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