Profound immunodeficiency with severe skin disease explained by concomitant novel CARMIL2 and PLEC1 loss-of-function mutations

Profound immunodeficiency with severe skin disease explained by concomitant novel CARMIL2 and PLEC1 loss-of-function mutations

Copyright © 2019 Elsevier Inc. All rights reserved.

Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 208(2019) vom: 20. Nov., Seite 108228
1. Verfasser: Maccari, Maria E (VerfasserIn)
Weitere Verfasser: Speckmann, Carsten, Heeg, Maximilian, Reimer, Antonia, Casetti, Federica, Has, Cristina, Ehl, Stephan, Castro, Carla N
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2019
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Case Reports Letter Research Support, Non-U.S. Gov't CARMIL2 Epidermolysis bullosa Immunodeficiency Plectin RLTPR Whole exome sequencing CARMIL1 protein, human mehr... Microfilament Proteins PLEC protein, human
Online verfügbar Volltext