Combined Mutation And Rearrangement Screening by Quantitative PCR High-Resolution Melting: Is It Relevant for Hereditary Recurrent Fever Genes?

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...

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Autores principales: Pallares-Ruiz, Nathalie, Philibert, Laurent, Dumont, Bruno, Fabre, Aurélie, Cuisset, Laurence, Cointin, Elodie, Rittore, Cécile, Soler, Stéphan, Touitou, Isabelle
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2010
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2990815/
https://ncbi.nlm.nih.gov/pubmed/21124859
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0014096
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