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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Front Immunol
Prif Awduron: Maffucci, Patrick, Filion, Charles A., Boisson, Bertrand, Itan, Yuval, Shang, Lei, Casanova, Jean-Laurent, Cunningham-Rundles, Charlotte
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Frontiers Media S.A. 2016
Pynciau:
Immunology
Mynediad Ar-lein: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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