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

by Nathalie Pallares-Ruiz, Laurent Philibert, Bruno Dumont, Aurélie Fabre, Laurence Cuisset, Elodie Cointin, Cécile Rittore, Stéphan Soler, Isabelle Touitou
Published 2010-11-01

TNFR1-d2 carrying the p.(Thr79Met) pathogenic variant is a potential novel actor of TNFα/TNFR1 signalling regulation in the pathophysiology of TRAPS

by Cécile Rittore, Déborah Méchin, Elodie Sanchez, Léa Marinèche, Vuthy Ea, Stephan Soler, Marion Vereecke, Aude Mallavialle, Eric Richard, Isabelle Duroux-Richard, Florence Apparailly, Isabelle Touitou, Sylvie Grandemange
Published 2021-02-01