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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Veröffentlicht in:J Pediatr Gastroenterol Nutr
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2014
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Article
Online Zugang: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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