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Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS

Large case–control genome-wide association studies primarily expose common variants contributing to disease pathogenesis with modest effects. Thus, alternative strategies are needed to tackle rare, possibly more penetrant alleles. One strategy is to use special populations with a founder effect and...

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Détails bibliographiques
Auteurs principaux: Kallio, Suvi P., Jakkula, Eveliina, Purcell, Shaun, Suvela, Minna, Koivisto, Keijo, Tienari, Pentti J., Elovaara, Irina, Pirttilä, Tuula, Reunanen, Mauri, Bronnikov, Denis, Viander, Markku, Meri, Seppo, Hillert, Jan, Lundmark, Frida, Harbo, Hanne F., Lorentzen, Åslaug R., De Jager, Philip L., Daly, Mark J., Hafler, David A., Palotie, Aarno, Peltonen, Leena, Saarela, Janna
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2009
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2667286/
https://ncbi.nlm.nih.gov/pubmed/19221116
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp073
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