Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation

Germline mutations may cause human disease by various mechanisms. Missense and other in-frame mutations may be deleterious because the mutant proteins are not correctly targeted, do not function correctly, or both. We studied a child with mycobacterial disease caused by homozygosity for a novel in-f...

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Detalles Bibliográficos
Autores principales: Vogt, Guillaume, Bustamante, Jacinta, Chapgier, Ariane, Feinberg, Jacqueline, Boisson Dupuis, Stephanie, Picard, Capucine, Mahlaoui, Nizar, Gineau, Laure, Alcaïs, Alexandre, Lamaze, Christophe, Puck, Jennifer M., de Saint Basile, Geneviève, Khayat, Claudia Djambas, Mikhael, Raymond, Casanova, Jean-Laurent
Formato: Texto
Lenguaje:English
Publicado: The Rockefeller University Press 2008
Materias:
Brief Definitive Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2525579/
https://www.ncbi.nlm.nih.gov/pubmed/18625743
http://dx.doi.org/10.1084/jem.20071987

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