Novel frameshift mutation in NYX gene in a Russian family with complete congenital stationary night blindness.

Conclusions: This is probably the first case report with a novel mutation from Russia associated with CSNB1A. PMID: 31826698 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research