Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencing
Laura Batlle-Masó, Anna Mensa‐Vilaró, Manuel Solís-Moruno, Tomàs Marquès‐Bonet, Juan I. Aróstegui, Ferrán Casals
Topics & Concepts
Exome sequencingExomeDiseaseGenetic testingMedicineGeneticsAnakinraCandidate geneCompound heterozygosityBiologyPhenotypeGenePathologyImmunodeficiency and Autoimmune DisordersInflammasome and immune disordersNF-κB Signaling Pathways