Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses

Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses

Abstract Background To report the clinical and genetic findings from seven Chinese patients with choroideremia. Methods Five hundred seventy-eight patients with a clinically suspected diagnosis of retinitis pigmentosa (RP) underwent comprehensive ophthalmic examinations. Next-generation sequencing (...

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Bibliographic Details
Main Authors: Feng-Juan Gao, Guo-Hong Tian, Fang-Yuan Hu, Dan-Dan Wang, Jian-Kang Li, Qing Chang, Fang Chen, Ge-Zhi Xu, Wei Liu, Ji-Hong Wu
Format: Article
Language:English
Published: BMC 2020-06-01
Series:BMC Ophthalmology
Subjects:
Choroideremia
CHM
Gene mutations
Molecular diagnosis
Optical coherence tomography
Online Access:http://link.springer.com/article/10.1186/s12886-020-01478-x

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