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Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency

Whole exome sequencing (WES) has proven an effective tool for the discovery of genetic defects in patients with primary immunodeficiencies (PIDs). However, success in dissecting the genetic etiology of common variable immunodeficiency (CVID) has been limited. We outline a practical framework for usi...

詳細記述

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書誌詳細
出版年:Front Immunol
主要な著者: Maffucci, Patrick, Filion, Charles A., Boisson, Bertrand, Itan, Yuval, Shang, Lei, Casanova, Jean-Laurent, Cunningham-Rundles, Charlotte
フォーマット: Artigo
言語:Inglês
出版事項: Frontiers Media S.A. 2016
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4903998/
https://ncbi.nlm.nih.gov/pubmed/27379089
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fimmu.2016.00220
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