Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2

Whole-genome and whole-exome sequencing of individual patients allow the study of rare and potentially causative genetic variation. In this study, we sequenced DNA of a trio comprising a boy with very-early-onset inflammatory bowel disease (veoIBD) and his unaffected parents. We identified a rare, X...

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Detalles Bibliográficos
Autores principales: Lipinski, Simone, Petersen, Britt-Sabina, Barann, Matthias, Piecyk, Agnes, Tran, Florian, Mayr, Gabriele, Jentzsch, Marlene, Aden, Konrad, Stengel, Stephanie T., Klostermeier, Ulrich C., Sheth, Vrunda, Ellinghaus, David, Rausch, Tobias, Korbel, Jan O., Nothnagel, Michael, Krawczak, Michael, Gilissen, Christian, Veltman, Joris A., Forster, Michael, Forster, Peter, Lee, Clarence C., Fritscher-Ravens, Annette, Schreiber, Stefan, Franke, Andre, Rosenstiel, Philip
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2019
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6371741/
https://www.ncbi.nlm.nih.gov/pubmed/30709874
http://dx.doi.org/10.1101/mcs.a002428

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