Tag: Pathogenic mutations

Rapid identification of pathogenic mutations in sporadic hereditary retinal dystrophies using targeted next-generation sequencing

2017, No. 12, Clinical Science

Authors: Fang Xinhe,  Zhang Fangxia,  Zhu Yan,  Liu Yani,  Sheng Xunlun DOI: 10.3760/cma.j.issn.2095-0160.2017.12.009 Published 2017-12-10 Cite as Chin J Exp Ophthalmol, 2017,35(12): 1097-1103. Abstract                              [Download PDF] [Read Full Text] Background Hereditary retinal diseases (HRDs) are a group of retinal degenerative diseases with significant genetic and clinical heterogeneities.Traditional techniques are challenging […]