Article
Stargardt disease-associated mutation spectrum of a Russian Federation cohort.
European journal of medical genetics - 1 Feb 2017
Zolnikova Inna V, Strelnikov Vladimir V, Skvortsova Natalia A, Tanas Alexander S, Barh Debmalya, Rogatina Elena V, Egorova Irina V, Levina Darja V, Demenkova Olga N, Prikaziuk Egor G, Ivanova Marianna E
Abstract excerpt
ABCA4-associated mutation screening is extensively performed in European, African, American and several other populations for various retinopathies. However, it has not been well studied in a Russian cohort. Using next-generation (325 genes inherited disease panel) and Sanger sequencing technologies for the first time we documented the spectrum of genetic variations in a Russian retinopathy cohort of 51 patients...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.