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Adiponectin GWAS loci harboring extensive allelic heterogeneity exhibit distinct molecular consequences.
Spracklen CN, Iyengar AK, Vadlamudi S, Raulerson CK, Jackson AU, Brotman SM, Wu Y, Cannon ME, Davis JP, Crain AT, Currin KW, Perrin HJ, Narisu N, Stringham HM, Fuchsberger C, Locke AE, Welch RP, Kuusisto JK, Pajukanta P, Scott LJ, Li Y, Collins FS, Boehnke M, Laakso M, Mohlke KL. Spracklen CN, et al. Among authors: laakso m. PLoS Genet. 2020 Sep 11;16(9):e1009019. doi: 10.1371/journal.pgen.1009019. eCollection 2020 Sep. PLoS Genet. 2020. PMID: 32915782 Free PMC article.
Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland.
Jääskeläinen P, Kuusisto J, Miettinen R, Kärkkäinen P, Kärkkäinen S, Heikkinen S, Peltola P, Pihlajamäki J, Vauhkonen I, Laakso M. Jääskeläinen P, et al. Among authors: laakso m. J Mol Med (Berl). 2002 Jul;80(7):412-22. doi: 10.1007/s00109-002-0323-9. Epub 2002 Apr 11. J Mol Med (Berl). 2002. PMID: 12110947
Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1).
Pajukanta P, Lilja HE, Sinsheimer JS, Cantor RM, Lusis AJ, Gentile M, Duan XJ, Soro-Paavonen A, Naukkarinen J, Saarela J, Laakso M, Ehnholm C, Taskinen MR, Peltonen L. Pajukanta P, et al. Among authors: laakso m. Nat Genet. 2004 Apr;36(4):371-6. doi: 10.1038/ng1320. Epub 2004 Feb 29. Nat Genet. 2004. PMID: 14991056 Free article.
1,375 results