A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews
编码脱氢甘油二磷酸合酶的 DHDDS 中的错义突变与阿什肯纳兹犹太人的常染色体隐性视网膜色素变性有关
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2011.01.002
Lina Zelinger, Eyal Banin, Alexey Obolensky, Liliana Mizrahi-Meissonnier, Avigail Beryozkin, Dikla Bandah-Rozenfeld, Shahar Frenkel, Tamar Ben-Yosef, Saul Merin, Sharon B Schwartz, Artur V Cideciyan, Samuel G Jacobson, Dror Sharon
