Combined immunodeficiency due to a homozygous mutation in ORAI1 that deletes the C-terminus that interacts with STIM 1

Combined immunodeficiency due to a homozygous mutation in ORAI1 that deletes the C-terminus that interacts with STIM 1

Copyright © 2016 Elsevier Inc. All rights reserved.

Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 166-167(2016) vom: 03. Mai, Seite 100-2
1. Verfasser: Badran, Yousef R (VerfasserIn)
Weitere Verfasser: Massaad, Michel J, Bainter, Wayne, Cangemi, Brittney, Naseem, Shafiq Ur Rehman, Javad, Hashim, Al-Tamemi, Salem, Geha, Raif S, Chou, Janet
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2016
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Case Reports Letter Research Support, N.I.H., Extramural ORAI1 Severe combined immunodeficiency Whole exome sequencing Neoplasm Proteins ORAI1 Protein ORAI1 protein, human STIM1 protein, human Stromal Interaction Molecule 1
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