Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic Analyses
先天性高胰岛素血症和新型KDM6A重复——利用基因组和表观遗传分析解析其致病性
期刊:Journal of Clinical Endocrinology & Metabolism
影响因子:5.1
doi:10.1210/clinem/dgae524
Männistö, Jonna M E; Hopkins, Jasmin J; Hewat, Thomas I; Nasser, Fatima; Burrage, Joseph; Dastamani, Antonia; Mirante, Alice; Murphy, Nuala; Rzasa, Jessica; Kerkhof, Jennifer; Relator, Raissa; Johnson, Matthew B; Laver, Thomas W; Weymouth, Luke; Houghton, Jayne A L; Wakeling, Matthew N; Sadikovic, Bekim; Dempster, Emma L; Flanagan, Sarah E