Associated Papers
The pathogenicity of novel GUCY2D mutations in Leber congenital amaurosis 1 assessed by HPLC-MS/MS.
Feng X et al.
Plos One, 2020
An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.
Wang P et al.
Translational Vision Science & Technology, 2019
[Methodological study for detecting gene mutation of family with genotyping of compound heterogenicity of SEA alpha-thalassemia 1 and HbCS].
Chen J et al.
Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2010
A Novel GUCY2D Frameshift Deletion Identified in a Patient with Leber Congenital Amaurosis 1: A Case Report.
Zheng X et al.
Case Reports in Ophthalmology, 0
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