TY - GEN AU - Valentonyte,Ruta AU - Hampe,Jochen AU - Huse,Klaus AU - Rosenstiel,Philip AU - Albrecht,Mario AU - Stenzel,Annette AU - Nagy,Marion AU - Gaede,Karoline I AU - Franke,Andre AU - Haesler,Robert AU - Koch,Andreas AU - Lengauer,Thomas AU - Seegert,Dirk AU - Reiling,Norbert AU - Ehlers,Stefan AU - Schwinger,Eberhard AU - Platzer,Matthias AU - Krawczak,Michael AU - Müller-Quernheim,Joachim AU - Schürmann,Manfred AU - Schreiber,Stefan TI - Sarcoidosis is associated with a truncating splice site mutation in BTNL2 SN - 1061-4036 PY - 2005///0421 KW - Bronchoalveolar Lavage KW - Butyrophilins KW - Green Fluorescent Proteins KW - metabolism KW - HLA-DR Antigens KW - genetics KW - HLA-DRB1 Chains KW - HeLa Cells KW - Humans KW - Membrane Glycoproteins KW - Monocytes KW - microbiology KW - Mycobacterium tuberculosis KW - pathogenicity KW - Polymorphism, Single Nucleotide KW - Protein Conformation KW - RNA Splice Sites KW - RNA Splicing KW - Recombinant Fusion Proteins KW - Risk Factors KW - Sarcoidosis KW - Tumor Necrosis Factor-alpha KW - pharmacology N1 - Publication Type: Journal Article; Research Support, Non-U.S. Gov't UR - https://doi.org/10.1038/ng1519 ER -