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

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 origin...

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Hlavní autoři: Quarrell, Oliver W, Handley, Olivia, O'Donovan, Kirsty, Dumoulin, Christine, Ramos-Arroyo, Maria, Biunno, Ida, Bauer, Peter, Kline, Margaret, Landwehrmeyer, G Bernhard
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2012
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3234505/
https://ncbi.nlm.nih.gov/pubmed/21811303
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.136
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