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: reiling n.
Nat Genet. 2005 Apr;37(4):357-64. doi: 10.1038/ng1519. Epub 2005 Feb 27.
Nat Genet. 2005.
PMID: 15735647