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Clinical and Genetic Characteristics Analysis of Korean Patients with Stargardt Disease Using Targeted Exome Sequencing.

Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde - 1 Jan 2019

Sung Youngje, Choi Seung Woo, Shim Sung Han, Song Won Kyung

Abstract excerpt

PURPOSE: To investigate genetic mutations in Korean patients with Stargardt disease (STGD) using exome sequencing, and to analyze the correlations between genetic mutations and clinical phenotypes. METHODS: Peripheral venous blood was obtained from 24 clinically diagnosed Korean STGD patients, followed by extraction of genomic DNAs. Using exome sequencing we investigated gene mutations for the adenosine...

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Identifiers

PMID: 29975949
DOI: 10.1159/000490073

Genes

ABCA4
ELOVL4
PROM1

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