Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity
HK1 中的非编码顺式调节变异可导致先天性高胰岛素血症,且病情严重程度各异
期刊:Genome Medicine
影响因子:10.4
doi:10.1186/s13073-025-01440-w
Jasmin J Bennett #, Cécile Saint-Martin #, Bianca Neumann #, Jonna M E Männistö #, Jayne A L Houghton, Susann Empting, Matthew B Johnson, Thomas W Laver, Jonathan M Locke, Benjamin Spurrier, Matthew N Wakeling, Indraneel Banerjee, Antonia Dastamani, Hüseyin Demirbilek, John Mitchell, Markus Stange;