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Title:

Discrepancies in reporting the CAG repeat lengths for Huntington's disease.

Document type:
Journal Article; Research Support, Non-U.S. Gov't; Article
Author(s):
Quarrell, OW; Handley, O; O'Donovan, K; Dumoulin, C; Ramos-Arroyo, M; Biunno, I; Bauer, P; Kline, M; Landwehrmeyer, GB
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:
1
Pages contribution:
20-6
Language:
eng
Fulltext / DOI:
doi:10.1038/ejhg.2011.136
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/21811303
Print-ISSN:
1018-4813
TUM Institution:
Neurologische Klinik und Poliklinik
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