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Gene hunting in the genomic era: Approaches to diagnostic dilemmas in patients with primary immunodeficiencies

There are more than 180 different genetic causes of primary immunodeficiencies identified to date. Approaches for identifying causative mutations can be broadly classified into 3 strategies: (1) educated guesses based on known signaling pathways essential for immune cell development and function, (2...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Platt, Craig, Geha, Raif S., Chou, Janet
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2013
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3976463/
https://ncbi.nlm.nih.gov/pubmed/24100122
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaci.2013.08.021
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