ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.

BACKGROUND: Monogenic autoinflammatory diseases are caused by pathogenic variants in genes that regulate innate immune responses, and are characterized by sterile systemic inflammatory episodes. Since symptoms can overlap within this rapidly expanding disease category, accurate genetic diagnosis is...

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Publicado en:	Clinical Chemistry Vol. 66; no. 4; pp. 525 - 537
Autores principales:	Shinar, Yael, Ceccherini, Isabella, Rowczenio, Dorota, Aksentijevich, Ivona, Arostegui, Juan, Ben-Chétrit, Eldad, Boursier, Guilaine, Gattorno, Marco, Hayrapetyan, Hasmik, Hiroaki Ida, Nobuo Kanazawa, Lachmann, Helen J., Mensa-Vilaro, Anna, Nishikomori, Ryuta, Oberkanins, Christian, Obici, Laura, Ohara, Osamu, Ozen, Seza, Sarkisian, Tamara, Sheils, Katie
Formato:	Journal Article
Publicado:	Oxford University Press / USA Apr2020
Acceso en línea:	Ver este registro en EBSCOhost