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Article

A CIAS1 mutation in a Japanese girl with familial cold autoinflammatory syndrome.

European journal of pediatrics - 1 Feb 2008

Kanegane Hirokazu, Itazawa Toshiko, Saito Megumu, Nishikomori Ryuta, Makino Teruhiko, Shimizu Tadamichi, Adachi Yuichi, Nakahata Tatsutoshi, Miyawaki Toshio

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 17333269
DOI: 10.1007/s00431-007-0451-x

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A CIAS1 mutation in a Japanese girl with familial cold autoinflammatory syndrome.PMID 17333269Read ↗

A case of familial cold autoinflammatory syndrome confirmed by the presence of a CIAS1 mutation.Semantic proximity Read ↗

Two pathogenic CIAS1 mutations and plasma cytokine profile in a Finnish patient with familial cold autoinflammatory syndrome responsive to anakinra.Semantic proximity Read ↗

A novel CIAS1mutation in a Japanese patient with chronic infantile neurological cutaneous and articular syndrome.Semantic proximity Read ↗

Periodic fever, mild arthralgias, and reversible moderate and severe organ inflammation associated with the V198M mutation in the CIAS1 gene in three German patients--expanding phenotype of CIAS1 related autoinflammatory syndrome.Semantic proximity Read ↗

Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P.Semantic proximity Read ↗

A fatal Turkish case of CINCA-NOMID syndrome due to the novel Val-351-Leu CIAS1 gene mutation.Semantic proximity Read ↗

New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes.Semantic proximity Read ↗

Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndromeSemantic proximity Read ↗

Familial cold autoinflammatory syndrome: Phenotype and genotype of an autosomal dominant periodic feverSemantic proximity Read ↗

Novel heterozygous mutation of RTEL1 in interstitial pneumonia with autoimmune feature.Semantic proximity Read ↗

"Mutation negative" familial cold autoinflammatory syndrome (FCAS) in an 8-year-old boy: clinical course and functional studies.Semantic proximity Read ↗

When less is more: primary immunodeficiency with an autoinflammatory kick.Semantic proximity Read ↗

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