Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability
导致新生儿或儿童期发病的GCK纯合突变的表型严重程度主要通过影响蛋白质稳定性来介导。
期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddu360
Raimondo, Anne; Chakera, Ali J; Thomsen, Soren K; Colclough, Kevin; Barrett, Amy; De Franco, Elisa; Chatelas, Alisson; Demirbilek, Huseyin; Akcay, Teoman; Alawneh, Hussein; Flanagan, Sarah E; Van De Bunt, Martijn; Hattersley, Andrew T; Gloyn, Anna L; Ellard, Sian
