Exome Sequencing Identifies a Novel FOXP3 Mutation in a 2-Generation Family With Inflammatory Bowel Disease

OBJECTIVES: Inflammatory bowel disease (IBD) is heritable, but a total of 163 variants commonly implicated in IBD pathogenesis account for only 25% of the heritability. Rare, highly penetrant genetic variants may also explain mendelian forms of IBD and some of the missing heritability. To test the h...

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Publicado no:J Pediatr Gastroenterol Nutr
Main Authors: Okou, David T., Mondal, Kajari, Faubion, William A., Kobrynski, Lisa J., Denson, Lee A., Mulle, Jennifer G., Ramachandran, Dhanya, Xiong, Yuning, Svingen, Phyllis, Patel, Viren, Bose, Promita, Waters, Jon P., Prahalad, Sampath, Cutler, David J., Zwick, Michael E., Kugathasan, Subra
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4277865/
https://ncbi.nlm.nih.gov/pubmed/24792626
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MPG.0000000000000302
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