RGD Reference Report - CARD15 mutations in Blau syndrome. - Rat Genome Database
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CARD15 mutations in Blau syndrome.

Authors: Miceli-Richard, C  Lesage, S  Rybojad, M  Prieur, AM  Manouvrier-Hanu, S  Hafner, R  Chamaillard, M  Zouali, H  Thomas, G  Hugot, JP 
Citation: Miceli-Richard C, etal., Nat Genet. 2001 Sep;29(1):19-20.
RGD ID: 8158040
Pubmed: (View Article at PubMed) PMID:11528384
DOI: Full-text: DOI:10.1038/ng720

We have identified three missense mutations in the nucleotide-binding domain (NBD) of CARD15/NOD2 in four French and German families with Blau syndrome. Our findings indicate that, in addition to Crohn disease, CARD15 is involved in the susceptibility to a second granulomatous disorder.

Annotation

Disease Annotations    
Blau syndrome  (IAGP,ISO)

Phenotype Annotations    

Human Phenotype
Arthritis  (IAGP)
Objects Annotated

Genes (Rattus norvegicus)
Nod2  (nucleotide-binding oligomerization domain containing 2)

Genes (Mus musculus)
Nod2  (nucleotide-binding oligomerization domain containing 2)

Genes (Homo sapiens)
NOD2  (nucleotide binding oligomerization domain containing 2)


Additional Information