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SCA2 trinucleotide expansion in German SCA patients

Riess, O, Laccone, F A, Gispert, S, Schöls, L, Zühlke, C, Vieira-Saecker, A M M, Herlt, S, Wessel, K, Epplen, J T, Weber, Bernhard H. F. and et. al, . (1997) SCA2 trinucleotide expansion in German SCA patients. Neurogenetics 1 (1), pp. 59-64.

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Abstract

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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Item type:Article
Date:1997
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1007/s100480050009DOI
10735276PubMed ID
Keywords:spinocerebellar ataxia, SCA2, trinucleotide repeat expansion, octogenarians, repeat instability
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:No
Item ID:35479
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