NLRP3 A439V mutation in a large family with cryopyrin-associated periodic syndrome

Kuemmerle-Deschner JB, Verma D, Grom AA, et al.

J Rheumatol · 2016

Key Findings

  • Detailed phenotypic description across large CAPS kindred
  • Variable expressivity with same mutation

Referenced in (1 disease)

Validation history

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  1. passsource metadataJun 1, 2026, 01:59 PMby pubmed-api

    PMID/DOI resolved and recorded from PubMed E-utilities during SEO DOI backfill.

    tools: pubmed.esummary

ID: pmid-27134254DOI: 10.3899/jrheum.150681PMID: 27134254