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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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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2009
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Acesso em linha: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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