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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Главные авторы:	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
Формат:	Journal article
Язык:	English
Опубликовано:	Nature Research 2020

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