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Genetic variation in the PNPLA3 gene is associated with alcoholic liver injury in caucasians.
Stickel F, Buch S, Lau K, Meyer zu Schwabedissen H, Berg T, Ridinger M, Rietschel M, Schafmayer C, Braun F, Hinrichsen H, Günther R, Arlt A, Seeger M, Müller S, Seitz HK, Soyka M, Lerch M, Lammert F, Sarrazin C, Kubitz R, Häussinger D, Hellerbrand C, Bröring D, Schreiber S, Kiefer F, Spanagel R, Mann K, Datz C, Krawczak M, Wodarz N, Völzke H, Hampe J. Stickel F, et al. Among authors: hampe j. Hepatology. 2011 Jan;53(1):86-95. doi: 10.1002/hep.24017. Epub 2010 Dec 7. Hepatology. 2011. PMID: 21254164
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
416 results