Seven novel variants expand the spectrum of RPE65-related Leber congenital amaurosis in the Chinese population.

Conclusions: Mutations in RPE65 were responsible for 11 of the cohort of 187 Chinese families with LCA, which expands the spectrum of RPE65-related LCA in the Chinese population and potentially facilitates its clinical implementation. PMID: 30996589 [PubMed - in process]
Source: Molecular Vision - Category: Molecular Biology Tags: Mol Vis Source Type: research