Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Blau syndrome-related CARD15/NOD2 mutations are not linked to idiopathic uveitis in Spanish patients.

Disease markers - 1 Jan 2009

Rodríguez-Pérez Noelia, Aguinaga-Barrilero Ana, Gorroño-Echebarría Marina B, Pérez-Blas Mercedes, Martín-Villa José M

Abstract excerpt

Uveitis is a clinical feature of the Blau syndrome, a disease linked to CARD15 (also referred to as NOD2) mutations. Three main mutations in this gene (R334W, R334Q and L469F) have been reported as Blau syndrome risk factors, a disease that manifests uveitis as one of its clinical features. However, little is known on the involvement of this gene in idiopathic uveitis. We thus sought to determine the frequency of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Case-Control Studies
Share to DNA

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Nod2 Signaling Adaptor Protein

Share to Polymerase Chain Reaction

Share to Polymorphism, Restriction Fragment Length

Share to Syndrome

Share to Uveitis

Source

Open in PubMed Open full text

Identifiers

PMID: 19822951
DOI: 10.3233/DMA-2009-0639
PMCID: PMC3835056

Genes

NOD2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Blau syndrome-related CARD15/NOD2 mutations are not linked to idiopathic uveitis in Spanish patients.PMID 19822951Read ↗

Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutationSemantic proximity Read ↗

The common NOD2/CARD15 variant P268S in patients with non-infectious uveitis: a cohort study.Semantic proximity Read ↗

Uveitis in patients with sarcoidosis is not associated with mutations in NOD2 (CARD15).Semantic proximity Read ↗

A novel mutation in the<i>NOD2</i>gene associated with Blau syndrome: a Norwegian family with four affected membersSemantic proximity Read ↗

CARD15 mutations in Blau syndrome.Semantic proximity Read ↗

Analysis of Crohn's disease-related CARD15 polymorphisms in Spanish patients with idiopathic uveitis.Semantic proximity Read ↗

Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review.Semantic proximity Read ↗

NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome.Semantic proximity Read ↗

Blau syndrome-associated uveitis and the NOD2 gene.Semantic proximity Read ↗

[Clinical features of Blau syndrome and early-onset sarcoidosis and associating CARD15/NOD2 gene mutations].Semantic proximity Read ↗

Genetic and Clinical Features of Blau Syndrome among Chinese Patients with Uveitis.Semantic proximity Read ↗

CARD15 gene mutations in sarcoidosis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.