Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinammatory syndrome

Summary

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Authors: Selket Delafontaine, Alberto Iannuzzo, Tarin M Bigley, Bram Mylemans, Ruchit Rana, Pieter Baatsen, Maria Cecilia Poli, Daisy Rymen, Katrien Jansen, Djalila Mekahli, Ingele Casteels, Catherine Cassiman, Philippe Demaerel, Alice Lepelley, Marie-Louise Frémond, Rik Schrijvers, Xavier Bossuyt, Katlijn Vints, Wim Huybrechts, Rachida Tacine, Karen Willekens, Anniek Corveleyn, Bram Boeckx, Marco Baggio,

Journal title: Journal of Clinical Investigation

Journal publisher: American Society for Clinical Investigation

Published year: 2024

DOI identifier: 10.1172/jci163604

ISSN: 0021-9738