MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease.
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Familial Mediterranean fever: current perspectivesThe challenge of autoinflammatory syndromes: with an emphasis on hyper-IgD syndromeGenetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study.Molecular mechanisms in genetically defined autoinflammatory diseases: disorders of amplified danger signaling.Familial Mediterranean fever: genotype-phenotype correlations in Japanese patients.The risk of familial Mediterranean fever in MEFV heterozygotes: a statistical approachMonogenic autoinflammatory diseases: disorders of amplified danger sensing and cytokine dysregulation.Treating inflammation by blocking interleukin-1 in humans.Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for ManagementEvidence-based recommendations for genetic diagnosis of familial Mediterranean fever.A systematic approach to autoinflammatory syndromes: a spelling booklet for the beginner.Systemic and organ involvement in monogenic autoinflammatory disorders: a global review filtered through internists' lens.Lessons from characterization and treatment of the autoinflammatory syndromes.[Role of genetics in familial Mediterranean fever].Evidence of digenic inheritance in autoinflammation-associated genes.Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue-a case series and genetic exploration.Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation.Applications of reconstituted inflammasomes in a cell-free system to drug discovery and elucidation of the pathogenesis of autoinflammatory diseases.A novel single variant in the MEFV gene causing Mediterranean fever and Behçet's disease: a case report.
P2860
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P2860
MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease.
description
2013 nî lūn-bûn
@nan
2013 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի մարտին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
MEFV mutations affecting pyrin ...... nant autoinflammatory disease.
@ast
MEFV mutations affecting pyrin ...... nant autoinflammatory disease.
@en
MEFV mutations affecting pyrin ...... nant autoinflammatory disease.
@nl
type
label
MEFV mutations affecting pyrin ...... nant autoinflammatory disease.
@ast
MEFV mutations affecting pyrin ...... nant autoinflammatory disease.
@en
MEFV mutations affecting pyrin ...... nant autoinflammatory disease.
@nl
prefLabel
MEFV mutations affecting pyrin ...... nant autoinflammatory disease.
@ast
MEFV mutations affecting pyrin ...... nant autoinflammatory disease.
@en
MEFV mutations affecting pyrin ...... nant autoinflammatory disease.
@nl
P2093
P2860
P50
P1476
MEFV mutations affecting pyrin ...... nant autoinflammatory disease.
@en
P2093
Agata Szperl
Edwin Cuppen
Joost Frenkel
Jos W M van der Meer
Marcel van Deuren
Marielle van Gijn
Mihai G Netea
Monique Stoffels
Sylvia Kamphuis
Wigard P Kloosterman
P2860
P304
P356
10.1136/ANNRHEUMDIS-2012-202580
P407
P577
2013-03-16T00:00:00Z