Discrepancies in reporting the CAG repeat lengths for Huntington's disease
ContributorsQuarrell, Oliver W; Handley, Olivia; O'Donovan, Kirsty; Dumoulin, Christine; Ramos-Arroyo, Maria; Biunno, Ida; Bauer, Peter; Kline, Margaret; Landwehrmeyer, G Bernhard; European Huntington's disease network
CollaboratorsKaelin, André
Published inEuropean journal of human genetics, vol. 20, no. 1, p. 20-26
Publication date2012
Abstract
Keywords
- Alleles
- Diagnostic Errors/statistics & numerical data
- Genetic Testing/methods/standards
- Guidelines as Topic
- Humans
- Huntington Disease/diagnosis/genetics
- International Cooperation
- Mutation
- Nerve Tissue Proteins/genetics
- Nuclear Proteins/genetics
- Reference Standards
- Reproducibility of Results
- Sensitivity and Specificity
- Trinucleotide Repeats
Affiliation entities
Research groups
Citation (ISO format)
QUARRELL, Oliver W et al. Discrepancies in reporting the CAG repeat lengths for Huntington’s disease. In: European journal of human genetics, 2012, vol. 20, n° 1, p. 20–26. doi: 10.1038/ejhg.2011.136
Main files (1)
Article (Published version)
Identifiers
- PID : unige:30601
- DOI : 10.1038/ejhg.2011.136
- PMID : 21811303
Journal ISSN1018-4813