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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...

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Detalhes bibliográficos
Publicado no:Front Immunol
Main Authors: Maffucci, Patrick, Filion, Charles A., Boisson, Bertrand, Itan, Yuval, Shang, Lei, Casanova, Jean-Laurent, Cunningham-Rundles, Charlotte
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2016
Assuntos:
Acesso em linha: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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