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Article

An international external quality assessment for molecular diagnosis of hereditary recurrent fevers: a 3-year scheme demonstrates the need for improvement.

European journal of human genetics : EJHG - 1 Jul 2009

Touitou I, Rittore C, Philibert L, Yagüe J, Shinar Y, Aksentijevich I

Abstract excerpt

Hereditary recurrent fevers (HRF) are rare diseases caused by molecular defects in genes involved in the regulation of innate immunity. Sixty-seven international laboratories participated in an external quality assessment (EQA) scheme, which was developed to appraise the accuracy of genetic testing. Reports were evaluated for the 12 items recommended by the OECD (Organisation for Economic Co-Operation and...

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Identifiers

PMID: 19172992
DOI: 10.1038/ejhg.2008.253
PMCID: PMC2986501

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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