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SCA2 trinucleotide expansion in German SCA patients

Riess, O. ; Laccone, F. ; Gispert, S. ; Schöls, L. ; Zühlke, C. ; Vieira-Saecker, A. M. M. ; Herlt, S. ; Wessel, K. ; Epplen, J. T. ; Weber, Bernhard H. F. ; et. al, .


Autosomal dominant spinocerebellar ataxias (SCA) are a group of clinically and genetically heterogeneous neurodegenerative disorders which lead to progressive cerebellar ataxia. A gene responsible for SCA type 2 has been mapped to human chromosome 12 and the disease causing mutation has been identified as an unstable and expanded (CAG)n trinucleotide repeat. We investigated the (CAG)n repeat ...


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