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Article

Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states.

Nature genetics - 1 Mar 2001

Schaner P, Richards N, Wadhwa A, Aksentijevich I, Kastner D, Tucker P, Gumucio D

Abstract excerpt

Familial Mediterranean fever (FMF; MIM 249100) is an autosomal recessive disease characterized by recurrent attacks of fever with synovial, pleural or peritoneal inflammation. The disease is caused by mutations in the gene encoding the pyrin protein. Human population studies have revealed extremely high allele frequencies for several different pyrin mutations, leading to the conclusion that the mutant alleles...

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PMID: 11242116
DOI: 10.1038/85893

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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