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Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis.
Stickel F, Buch S, Zoller H, Hultcrantz R, Gallati S, Österreicher C, Finkenstedt A, Stadlmayr A, Aigner E, Sahinbegovic E, Sarrazin C, Schafmayer C, Braun F, Erhart W, Nothnagel M, Lerch MM, Mayerle J, Völzke H, Schaller A, Kratzer W, Boehm BO, Sipos B, D'Amato M, Torkvist L, Stal P, Arlt A, Franke A, Becker T, Krawczak M, Zwerina J, Berg T, Hinrichsen H, Krones E, Dejaco C, Strasser M, Datz C, Hampe J. Stickel F, et al. Among authors: hampe j. Hum Mol Genet. 2014 Jul 15;23(14):3883-90. doi: 10.1093/hmg/ddu076. Epub 2014 Feb 20. Hum Mol Genet. 2014. PMID: 24556216 Free article.
Sarcoidosis is associated with a truncating splice site mutation in BTNL2.
Valentonyte R, Hampe J, Huse K, Rosenstiel P, Albrecht M, Stenzel A, Nagy M, Gaede KI, Franke A, Haesler R, Koch A, Lengauer T, Seegert D, Reiling N, Ehlers S, Schwinger E, Platzer M, Krawczak M, Müller-Quernheim J, Schürmann M, Schreiber S. Valentonyte R, et al. Among authors: hampe j. Nat Genet. 2005 Apr;37(4):357-64. doi: 10.1038/ng1519. Epub 2005 Feb 27. Nat Genet. 2005. PMID: 15735647
417 results