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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2990815/
https://www.ncbi.nlm.nih.gov/pubmed/21124859
http://dx.doi.org/10.1371/journal.pone.0014096

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