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Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings

Primary immunodeficiencies (PIDs) refer to a clinically, immunologically, and genetically heterogeneous group of over 350 disorders affecting development or function of the immune system. The increasing use of next-generation sequencing (NGS) technology has greatly facilitated identification of gene...

詳細記述

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書誌詳細
出版年:Front Immunol
主要な著者: Rudilla, Francesc, Franco-Jarava, Clara, Martínez-Gallo, Mónica, Garcia-Prat, Marina, Martín-Nalda, Andrea, Rivière, Jacques, Aguiló-Cucurull, Aina, Mongay, Laura, Vidal, Francisco, Solanich, Xavier, Irastorza, Iñaki, Santos-Pérez, Juan Luis, Tercedor Sánchez, Jesús, Cuscó, Ivon, Serra, Clara, Baz-Redón, Noelia, Fernández-Cancio, Mónica, Carreras, Carmen, Vagace, José Manuel, Garcia-Patos, Vicenç, Pujol-Borrell, Ricardo, Soler-Palacín, Pere, Colobran, Roger
フォーマット: Artigo
言語:Inglês
出版事項: Frontiers Media S.A. 2019
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6797824/
https://ncbi.nlm.nih.gov/pubmed/31681265
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fimmu.2019.02325
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