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

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Détails bibliographiques
Publié dans:Clinical immunology (Orlando, Fla.). - 1999. - 208(2019) vom: 20. Nov., Seite 108228
Auteur principal: Maccari, Maria E (Auteur)
Autres auteurs: Speckmann, Carsten, Heeg, Maximilian, Reimer, Antonia, Casetti, Federica, Has, Cristina, Ehl, Stephan, Castro, Carla N
Format: Article en ligne
Langue:English
Publié: 2019
Accès à la collection:Clinical immunology (Orlando, Fla.)
Sujets:Case Reports Letter Research Support, Non-U.S. Gov't CARMIL2 Epidermolysis bullosa Immunodeficiency Plectin RLTPR Whole exome sequencing CARMIL1 protein, human plus... Microfilament Proteins PLEC protein, human
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