Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly
上游调控序列的杂合三重重复导致空洞性视盘异常患者的基质金属蛋白酶 19 失调
期刊:Human Mutation
影响因子:3.3
doi:10.1002/humu.22754
Ralph J Hazlewood, Benjamin R Roos, Frances Solivan-Timpe, Robert A Honkanen, Lee M Jampol, Stephen C Gieser, Kacie J Meyer, Robert F Mullins, Markus H Kuehn, Todd E Scheetz, Young H Kwon, Wallace L M Alward, Edwin M Stone, John H Fingert