New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11
一种新的视网膜色素变性综合征是由视黄醇脱氢酶RDH11的无义突变引起的
期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddu291
Xie, Yajing Angela; Lee, Winston; Cai, Carolyn; Gambin, Tomasz; Nõupuu, Kalev; Sujirakul, Tharikarn; Ayuso, Carmen; Jhangiani, Shalini; Muzny, Donna; Boerwinkle, Eric; Gibbs, Richard; Greenstein, Vivienne C; Lupski, James R; Tsang, Stephen H; Allikmets, Rando