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The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease

Metzger, Silke, Bauer, Peter, Tomiuk, Juergen, Laccone, Franco, Didonato, Stefano, Gellera, Cinzia, Soliveri, Paola, Lange, Herwig W., Weirich-Schwaiger, Helga, Wenning, Gregor K., Melegh, Bela, Havasi, Victoria, Balikó, Lazlo, Wieczorek, Stefan, Arning, Larissa, Zaremba, Jacek, Sulek, Anna, Hoffman-Zacharska, Dorota, Basak, A. Nazli, Ersoy, Nagehan, Zidovska, Jana, Kebrdlova, Vera, Pandolfo, Massimo, Ribaï, Pascale, Kadasi, Ludovit, Kvasnicova, Marta, Weber, Bernhard H. F., Kreuz, Friedmar, Dose, Matthias, Stuhrmann, Manfred and Riess, Olaf (2006) The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease. Neurogenetics 7 (1), pp. 27-30.

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Date of publication of this fulltext: 05 Aug 2009 13:24

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Other URL: http://dx.doi.org/10.1007/s10048-005-0023-z


An expanded polyglutamine stretch in the huntingtin protein has been identified as the pathogenetic cause of Huntington's disease (HD). Although the length of the expanded polyglutamine repeat is inversely correlated with the age-at-onset, additional genetic factors are thought to modify the variance in the disease onset. As linkage analysis suggested a modifier locus on chromosome 4p, we ...


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Item type:Article
Date:March 2006
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
16369839PubMed ID
Keywords:Huntington's disease; Age-at-onset; Genetic modifiers; Ubiquitin carboxy-terminal hydrolase L1 (UCHL1); S18Y polymorphism
Dewey Decimal Classification:500 Science > 570 Life sciences
600 Technology > 610 Medical sciences Medicine
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Unknown
Item ID:1000
Owner only: item control page


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