Genetic testing for congenital stationary night blindness

Genetic testing for congenital stationary night blindness

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for congenital stationary night blindness (CSNB). CSNB is inherited in an autosomal dominant manner in the case of mutations in the GNAT1, PDE6B and RHO genes, in an autosomal r...

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Bibliographic Details
Main Authors: Abeshi Andi, Coppola Pamela, Beccari Tommaso, Dundar Munis, Viola Francesco, Colombo Leonardo, Bertelli Matteo
Format: Article
Language:English
Published: Sciendo 2017-10-01
Series:The EuroBiotech Journal
Online Access:https://doi.org/10.24190/ISSN2564-615X/2017/S1.12

Internet

https://doi.org/10.24190/ISSN2564-615X/2017/S1.12

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