Article
Analysis of ELOVL4 and PRPH2 genes in Turkish Stargardt disease patients.
Genetics and molecular research : GMR - 24 Oct 2016
Bardak H, Gunay M, Erçalık Y, Bardak Y, Ozbas H, Bagci O, Ayata A, Sönmez M, Alagöz C
Abstract excerpt
Stargardt disease (STGD) is an inherited genetic eye condition involving bilateral macular dystrophy leading to progressive central vision loss. It is the most common form of autosomal recessive juvenile macular dystrophy. In this study, ELOVL4 and PRPH2 genes were analyzed in 30 STGD probands for genetic variations using next-generation sequencing. In the patient group, two genetic variants in exon 6 of ELOVL4,...
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