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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. Nat Genet. 2005 Apr;37(4):357-64. doi: 10.1038/ng1519. Epub 2005 Feb 27. Nat Genet. 2005. PMID: 15735647
HLA-DQB1 and HLA-DPB1 genotypes in familial sarcoidosis.
Schürmann M, Bein G, Kirsten D, Schlaak M, Müller-Quernheim J, Schwinger E. Schürmann M, et al. Respir Med. 1998 Apr;92(4):649-52. doi: 10.1016/s0954-6111(98)90512-1. Respir Med. 1998. PMID: 9659531 Free article.
Familial sarcoidosis is linked to the major histocompatibility complex region.
Schürmann M, Lympany PA, Reichel P, Müller-Myhsok B, Wurm K, Schlaak M, Müller-Quernheim J, du Bois RM, Schwinger E. Schürmann M, et al. Am J Respir Crit Care Med. 2000 Sep;162(3 Pt 1):861-4. doi: 10.1164/ajrccm.162.3.9901099. Am J Respir Crit Care Med. 2000. PMID: 10988096
296 results