共 50 条
- [42] The pathogenicity of novel GUCY2D mutations in Leber congenital amaurosis 1 assessed by HPLC-MS/MS PLOS ONE, 2020, 15 (04):
- [44] Phenotypic characterization of a Chinese family with autosomal dominant cone–rod dystrophy related to GUCY2D Documenta Ophthalmologica, 2013, 126 : 233 - 240
- [45] GUCY2D Cone-Rod Dystrophy-6 Is a "Phototransduction Disease" Triggered by Abnormal Calcium Feedback on Retinal Membrane Guanylyl Cyclase 1 JOURNAL OF NEUROSCIENCE, 2018, 38 (12): : 2990 - 3000
- [46] A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family MOLECULAR VISION, 2011, 17 (349-53): : 3271 - 3278