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Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs

Background: Primary immunodeficiencies (PIDs) are a diverse group of disorders caused by multiple genetic defects. Obtaining a molecular diagnosis for PID patients using a phenotype-based approach is often complex, expensive, and not always successful. Next-generation sequencing (NGS) methods offer...

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Detalles Bibliográficos
Autores principales: Stoddard, Jennifer L., Niemela, Julie E., Fleisher, Thomas A., Rosenzweig, Sergio D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4217515/
https://www.ncbi.nlm.nih.gov/pubmed/25404929
http://dx.doi.org/10.3389/fimmu.2014.00531