Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China

Conclusions: The new findings in our study group polished the spectrum of the novel mutations and phenotypes of LCA with regional and ethnic variations. This comprehensive database can provide essential information for gene therapies.PMID:33970760 | DOI:10.1080/13816810.2021.1904417

Source: Ophthalmic Genetics - May 10, 2021 Category: Opthalmology Authors: Luyao Zhu Wangbin Ouyang Minfang Zhang Hao Wang Shiying Li Xiaohong Meng Zheng Qin Yin Source Type: research