Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay

Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay

Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 188(2018) vom: 01. März, Seite 20-22
1. Verfasser: Lougaris, Vassilios (VerfasserIn)
Weitere Verfasser: Chou, Janet, Baronio, Manuela, Gazzurelli, Luisa, Lorenzini, Tiziana, Soresina, Annarosa, Moratto, Daniele, Badolato, Raffaele, Seleman, Michael, Bellettato, Massimo, Geha, Raif S, Plebani, Alessandro
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2018
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Case Reports Letter Research Support, Non-U.S. Gov't B cells Hypogammaglobulinemia T cells TRNT1 Nucleotidyltransferases EC 2.7.7.- TRNT1 protein, human EC 2.7.7.72
Beschreibung
Beschreibung:Date Completed 22.04.2019
Date Revised 07.12.2022
published: Print-Electronic
Citation Status MEDLINE
ISSN:1521-7035
DOI:10.1016/j.clim.2017.11.008