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Document type:
journal article 
Author(s):
Quarrell, OW; Handley, O; O'Donovan, K; Dumoulin, C; Ramos-Arroyo, M; Biunno, I; Bauer, P; Kline, M; Landwehrmeyer, GB; European Huntington's Disease Network; Barth, K; Correia Guedes, L; Maria Finisterra, A; Bascuñana Garde, M; Bos, R; Ecker, D; Held, C; Koppers, K; Laurà, M; Martínez Descals, A; McLean, T; Mestre, T; Minster, S; Monza, D; Townhill, J; Orth, M; Padieu, H; Paterski, L; Peppa, N; Koivisto, SP; Rialland, A; Røren, N; ?a?inková, P; Cubillo, PT; van Walsem, MR; Witjes-Ané, MN; Yudin...    »
 
Title:
Discrepancies in reporting the CAG repeat lengths for Huntington's disease. 
Abstract:
Huntington's disease results from a CAG repeat expansion within the Huntingtin gene; this is measured routinely in diagnostic laboratories. The European Huntington's Disease Network REGISTRY project centrally measures CAG repeat lengths on fresh samples; these were compared with the original results from 121 laboratories across 15 countries. We report on 1326 duplicate results; a discrepancy in reporting the upper allele occurred in 51% of cases, this reduced to 13.3% and 9.7% when we applied...    »
 
Journal title abbreviation:
Eur J Hum Genet 
Year:
2012 
Journal volume:
20 
Journal issue:
Pages contribution:
20-6 
Language:
eng 
Print-ISSN:
1018-4813 
TUM Institution:
Neurologische Klinik und Poliklinik