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Feeling of cold hands and feet is a highly heritable phenotype.
Hur YM, Chae JH, Chung KW, Kim JJ, Jeong HU, Kim JW, Seo SY, Kim KS. Hur YM, et al. Among authors: chung kw. Twin Res Hum Genet. 2012 Apr;15(2):166-9. doi: 10.1375/twin.15.2.166. Twin Res Hum Genet. 2012. PMID: 22856358
NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1.
Shin JS, Chung KW, Cho SY, Yun J, Hwang SJ, Kang SH, Cho EM, Kim SM, Choi BO. Shin JS, et al. Among authors: chung kw. J Hum Genet. 2008;53(10):936-940. doi: 10.1007/s10038-008-0333-8. Epub 2008 Aug 29. J Hum Genet. 2008. PMID: 18758688
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
Cottenie E, Kochanski A, Jordanova A, Bansagi B, Zimon M, Horga A, Jaunmuktane Z, Saveri P, Rasic VM, Baets J, Bartsakoulia M, Ploski R, Teterycz P, Nikolic M, Quinlivan R, Laura M, Sweeney MG, Taroni F, Lunn MP, Moroni I, Gonzalez M, Hanna MG, Bettencourt C, Chabrol E, Franke A, von Au K, Schilhabel M, Kabzińska D, Hausmanowa-Petrusewicz I, Brandner S, Lim SC, Song H, Choi BO, Horvath R, Chung KW, Zuchner S, Pareyson D, Harms M, Reilly MM, Houlden H. Cottenie E, et al. Among authors: chung kw. Am J Hum Genet. 2014 Nov 6;95(5):590-601. doi: 10.1016/j.ajhg.2014.10.002. Epub 2014 Oct 30. Am J Hum Genet. 2014. PMID: 25439726 Free PMC article.
567 results