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Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.
Papanikolaou G, Samuels ME, Ludwig EH, MacDonald ML, Franchini PL, Dubé MP, Andres L, MacFarlane J, Sakellaropoulos N, Politou M, Nemeth E, Thompson J, Risler JK, Zaborowska C, Babakaiff R, Radomski CC, Pape TD, Davidas O, Christakis J, Brissot P, Lockitch G, Ganz T, Hayden MR, Goldberg YP. Papanikolaou G, et al. Among authors: franchini pl. Nat Genet. 2004 Jan;36(1):77-82. doi: 10.1038/ng1274. Epub 2003 Nov 30. Nat Genet. 2004. PMID: 14647275
Identification of four novel genes contributing to familial elevated plasma HDL cholesterol in humans.
Singaraja RR, Tietjen I, Hovingh GK, Franchini PL, Radomski C, Wong K, vanHeek M, Stylianou IM, Lin L, Wang L, Mitnaul L, Hubbard B, Winther M, Mattice M, Legendre A, Sherrington R, Kastelein JJ, Akinsanya K, Plump A, Hayden MR. Singaraja RR, et al. Among authors: franchini pl. J Lipid Res. 2014 Aug;55(8):1693-701. doi: 10.1194/jlr.M048710. Epub 2014 Jun 2. J Lipid Res. 2014. PMID: 24891332 Free PMC article.