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Article

Combined mutation and rearrangement screening by quantitative PCR high-resolution melting: is it relevant for hereditary recurrent Fever genes?

PloS one - 23 Nov 2010

Pallares-Ruiz Nathalie, Philibert Laurent, Dumont Bruno, Fabre Aurélie, Cuisset Laurence, Cointin Elodie, Rittore Cécile, Soler Stéphan, Touitou Isabelle

Abstract excerpt

The recent identification of genes implicated in hereditary recurrent fevers has allowed their specific diagnosis. So far however, only punctual mutations have been identified and a significant number of patients remain with no genetic confirmation of their disease after routine molecular approaches such as sequencing. The possible involvement of sequence rearrangements in these patients has only been examined in...

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Identifiers

PMID: 21124859
DOI: 10.1371/journal.pone.0014096
PMCID: PMC2990815

Genes

MVK
NLRP3
TNF

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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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