Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity
与SUMF1双等位基因变异和白细胞硫酸酯酶活性降低相关的非综合征性视网膜营养不良
期刊:Clinical Genetics
影响因子:2.3
doi:10.1111/cge.14573
Lin, Siying; Robson, Anthony G; Thompson, Dorothy A; Stepien, Karolina M; Lachmann, Robin; Footitt, Emma; Czyz, Ola; Chandrasekhar, Shwetha; Schiff, Elena; Iosifidis, Christos; Black, Graeme C; Michaelides, Michel; Mahroo, Omar A; Arno, Gavin; Webster, Andrew R