换一批
换一批A novel proline substitution (Arg201Pro) in alpha helix 8 of TMEM98 causes autosomal dominant nanophthalmos-4, closed angle glaucoma and attenuated visual acuity.
作者：
主题词
成年人(Adult);老年人, 80以上(Aged, 80 and over);氨基酸取代(Amino Acid Substitution);精氨酸(Arginine);女(雌)性(Female);滤过外科手术(Filtering Surgery);青光眼, 闭角型(Glaucoma, Angle-Closure);人类(Humans);远视(Hyperopia);晶体植入, 眼内(Lens Implantation, Intraocular);男(雄)性(Male);膜蛋白质类(Membrane Proteins);小眼(Microphthalmos);显微镜检查, 声学(Microscopy, Acoustic);中年人(Middle Aged);突变, 误义(Mutation, Missense);系谱(Pedigree);超声乳化白内障吸除术(Phacoemulsification);脯氨酸(Proline);视觉障碍(Vision Disorders);视敏度(Visual Acuity)
DOI
10.1016/j.exer.2021.108497
PMID
33596443
发布时间
2022-12-07
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Experimental eye research
108497页
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