Article
Sarcoidosis is associated with a truncating splice site mutation in BTNL2.
Nature genetics - 1 Apr 2005
Valentonyte Ruta, Hampe Jochen, Huse Klaus, Rosenstiel Philip, Albrecht Mario, Stenzel Annette, Nagy Marion, Gaede Karoline I, Franke Andre, Haesler Robert, Koch Andreas, Lengauer Thomas, Seegert Dirk, Reiling Norbert, Ehlers Stefan, Schwinger Eberhard, Platzer Matthias, Krawczak Michael, Müller-Quernheim Joachim, Schürmann Manfred, Schreiber Stefan
Abstract excerpt
Sarcoidosis is a polygenic immune disorder with predominant manifestation in the lung. Genome-wide linkage analysis previously indicated that the extended major histocompatibility locus on chromosome 6p was linked to susceptibility to sarcoidosis. Here, we carried out a systematic three-stage SNP...
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