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Article

De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis.

Journal of human genetics - 1 May 2011

Tadaki Hiromi, Saitsu Hirotomo, Nishimura-Tadaki Akira, Imagawa Tomoyuki, Kikuchi Masako, Hara Ryoki, Kaneko Utako, Kishi Takayuki, Miyamae Takako, Miyake Noriko, Doi Hiroshi, Tsurusaki Yoshinori, Sakai Haruya, Yokota Shumpei, Matsumoto Naomichi

Abstract excerpt

Systemic-onset juvenile idiopathic arthritis (s-JIA) is a rare inflammatory disease classified as a subtype of chronic childhood arthritis, manifested by spiking fever, erythematous skin rash, pericarditis and hepatosplenomegaly. The genetic background underlying s-JIA remains poorly understood. To detect disease-related copy number variations (CNVs), we performed single-nucleotide polymorphism array analysis in...

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Topics

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Share to Adaptor Proteins, Signal Transducing
Share to Arthritis, Juvenile

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Duplication

Share to Chromosomes, Human, Pair 19

Share to Comparative Genomic Hybridization

Share to DNA Copy Number Variations

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Source

Identifiers

PMID: 21326309
DOI: 10.1038/jhg.2011.16

Genes

HSPBP1
NLRP11
NLRP2
NLRP9

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.

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