Diagnostic application of clinical exome sequencing in Leber congenital amaurosis

Han, J; Rim, JH; Hwang, IS; Kim, J; Shin, S; Lee, ST; Choi, JR

Lee, ST (reprint author), Yonsei Univ, Coll Med, Severance Hosp, Dept Lab Med, Seoul, South Korea.

MOLECULAR VISION, 2017; 23 ( ): 649

Abstract

Purpose: Leber congenital amaurosis (LCA) is a hereditary retinal dystrophy with wide genetic heterogeneity. Nextgeneration sequencing (NGS) targeting......

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