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

Autor:	Ketevan V. Gorgisheli, Dmitry S. Atarshchikov, Inna V. Zolnikova, Marianna E. Ivanova, Preetam Ghosh, Debmalya Barh
Rok vydání:	2019
Předmět:	Genetics Congenital stationary night blindness Ophthalmology Pediatrics Perinatology and Child Health Mutation (genetic algorithm) Complete congenital stationary night blindness Biology Gene Novel mutation Genetics (clinical) X-linked recessive inheritance Frameshift mutation
Zdroj:	Ophthalmic Genetics. 40:558-563
ISSN:	1744-5094 1381-6810
DOI:	10.1080/13816810.2019.1698617
Popis:	Background: The complete form of X-linked congenital stationary night blindness (CSNB1A) is a very rare genetic disease caused by mutation in the NYX gene. CSNB1A-associated several mutations in th...
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::2ee5babe27c41300cb119723b9fd8a16 https://doi.org/10.1080/13816810.2019.1698617 Zobrazit plný text záznamu Plný text ve formátu PDF