Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

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Very-early-onset inflammatory bowel disease (VEO-IBD) is a heterogeneous phenotype associated with a spectrum of rare Mendelian disorders. Here, we perform whole-exome-sequencing and genome-wide genotyping in 145 patients (median age-at-diagnosis of 3.5 years), in whom no Mendelian disorders were cl...

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Những tác giả chính:	Gonçalves Serra, E, Schwerd, T, Moutsianas, L, Cavounidis, A, Fachal, L, Pandey, S, Kammermeier, J, Croft, NM, Posovszky, C, Rodrigues, A, Russell, RK, Barakat, F, Auth, MKH, Heuschkel, R, Zilbauer, M, Fyderek, K, Braegger, C, Travis, SP, Satsangi, J, Parkes, M, Thapar, N, Ferry, H, Matte, JC, Gilmour, KC, Wedrychowicz, A, Sullivan, P, Moore, C, Sambrook, J, Ouwehand, W, Roberts, D, Danesh, J, Baeumler, TA, Fulga, TA, Karaminejadranjbar, M, Ahmed, A, Wilson, R, Barrett, JC, Elkadri, A, Griffiths, AM, COLORS in IBD group investigators, Oxford IBD cohort study investigators, INTERVAL Study, Swiss IBD cohort investigators, UK IBD Genetics Consortium, NIDDK IBD Genetics Consortium, Snapper, SB, Shah, N, Muise, AM, Wilson, DC, Et al
Định dạng:	Journal article
Ngôn ngữ:	English
Được phát hành:	Nature Research 2020

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