NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease

Genetic defects that affect intestinal epithelial barrier function can present with very early onset inflammatory bowel disease (VEOIBD). Using whole genome sequencing, a novel hemizygous defect in NOX1 encoding NAPDH oxidase 1 was identified in a patient with ulcerative colitis-like VEOIBD. Exome s...

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Detalles Bibliográficos
Autores principales: Schwerd, T., Bryant, R. V., Pandey, S., Capitani, M., Meran, L., Cazier, J.-B., Jung, J., Mondal, K., Parkes, M., Mathew, CG, Fiedler, K., McCarthy, D. J., Sullivan, PB, Rodrigues, A., Travis, SPL, Moore, C., Sambrook, J., Ouwehand, W. H., Roberts, D. J., Danesh, J., Russell, R. K., Wilson, D. C., Kelsen, J. R., Cornall, R., Denson, L. A., Kugathasan, S., Knaus, U. G., Goncalves Serra, E., Anderson, C. A., Duerr, R. H., McGovern, D. P. B., Cho, J., Powrie, F., Li, V. S. W., Muise, A. M., Uhlig, H. H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5924597/
https://www.ncbi.nlm.nih.gov/pubmed/29091079
http://dx.doi.org/10.1038/mi.2017.74

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