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TITLE: Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism
AUTHORS: Wakeling, MN; Owens, NDL; Hopkinson, JR; Johnson, MB; Houghton, JAL; Dastamani, A; Flaxman, CS; Wyatt, RC; Hewat, TI; Hopkins, JJ; Laver, TW; van Heugten, R; Weedon, MN; De Franco, E; Patel, KA; Ellard, S; Morgan, NG; Cheesman, E; Banerjee, I; Hattersley, AT; Dunne, MJ; Barić, I; de Vries, L; Hassan, SS; Humayun, KN; Levy Khademi, F; Limbert, C; Rami Merhar, B; Mericq, V; Neville, K; Ouarezki, Y; Tangari, A; Verge, C; Wiltshire, E; Richardson, SJ; Flanagan, SE; Congenital Hyperinsulinism Consortium International; ...More
PUBLISHED: 2022, SOURCE: Nature Genetics, VOLUME: 54, ISSUE: 11
INDEXED IN: Scopus