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      • Record: found
      • Abstract: found
      • Article: found

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

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          Abstract

          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.

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          Author and article information

          Journal
          Journal ID (iso-abbrev): Ophthalmologica
          Title: Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde
          Publisher: S. Karger AG
          ISSN (Electronic): 1423-0267
          ISSN (Print): 0030-3755
          Publication date (Electronic): 2019
          Volume: 241
          Issue: 1
          Affiliations
          [1 ] Department of Ophthalmology, CHA Bundang Medical Center, CHA University College of Medicine, Seongnam, Republic of Korea.
          [2 ] Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Suwon, Republic of Korea.
          [3 ] Genetics Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University College of Medicine, Seoul, Republic of Korea.
          [4 ] Department of Ophthalmology, CHA Bundang Medical Center, CHA University College of Medicine, Seongnam, Republic of Koreasongwkmd@hanmail.net.
          Article
          Publisher Item ID: 000490073
          DOI: 10.1159/000490073
          PubMed ID: 29975949
          SO-VID: e31706e3-b716-4c4c-9af0-f59fc91316e5
          History

          Keywords: ABCA4 mutation,Targeted exome sequencing,Stargardt disease,Korean patients
          Data availability:
          Keywords: ABCA4 mutation, Targeted exome sequencing, Stargardt disease, Korean patients

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