Blau syndrome-associated mutations in exon 4 of the caspase activating recruitment domain 15 (CARD 15) gene are not found in ethnic Danes with sarcoidosis.
Milman
Nils
N
Department of Medicine B, Division of Lung Transplantation, Rigshospitalet, Copenhagen University Hospital, DK-2100 Copenhagen, Denmark. nils.milman@webspeed.dk
Nielsen
Finn Cilius
FC
Hviid
Thomas Vauvert F
TV
Hansen
Thomas van Overeem
Tv
D000328:Adult; D000368:Aged; D000483:Alleles; D003718:Denmark / Q000453:epidemiology; D005091:Exons / Q000235:genetics*; D014644:Genetic Variation; D006105:Granulomatous Disease, Chronic / Q000235:genetics*; D006801:Humans; D015994:Incidence; D007438:Introns / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012507:Sarcoidosis / Q000453:epidemiology* / Q000208:ethnology / Q000235:genetics*; D013577:Syndrome; D055815:Young Adult
C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein