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NLRP3-associated Autoinflammatory Diseases: Phenotypic and Molecular Characteristics of Germline Versus Somatic Mutations.

Camille Louvrier,Eman Assrawi,Elma El Khouri,Isabelle Melki,Bruno Copin,Emmanuelle Bourrat,Noemie Lachaume, Berengere Cador-Rousseau,Philippe Duquesnoy,William Piterboth,Fawaz Awad,Claire Jumeau,Marie Legendre,Gilles Grateau,Sophie Georgin-Lavialle,Sonia A. Karabina,Serge Amselem,Irina Giurgea

Journal of Allergy and Clinical Immunology（2020）

Cited 50|Views64
Key words
NLRP3-associated autoinflammatory diseases,NLRP3,somatic mosaic mutations,NLRP3-inflammasome activation,mutational hot spot
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