Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D.
第一作者:
Dror,Sharon
第一单位:
Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, 91120, Israel; Hanse-Wissenschaftskolleg, Lehmkuhlenbusch 4, 27753 Delmenhorst, Germany. Electronic address: drorsh@ekmd.huji.ac.il.
作者:
主题词
遗传关联研究(Genetic Association Studies);鸟苷酸环化酶(Guanylate Cyclase);鸟苷酸环化酶激活蛋白质类(Guanylate Cyclase-Activating Proteins);人类(Humans);Leber先天性黑朦(Leber Congenital Amaurosis);突变(Mutation);光感受器细胞, 脊椎动物(Photoreceptor Cells, Vertebrate);受体, 细胞表面(Receptors, Cell Surface);视网膜疾病(Retinal Diseases)
DOI
10.1016/j.preteyeres.2017.10.003
PMID
29061346
发布时间
2018-12-21
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