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  • west china medical publishers
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    find Keyword "Macular degeneration/genetics" 1 results
    • Stargardt is disease and mutations of ABCR gene

      Objective To investigate the disease-causing gene of Stargardt disease. Method Fifteen patients with Stargardt disease were analyzed with 11 primers of the 11 exons of ABCR gene by using PCR-SSCP and DNA direct sequencing techniques. Results Three newly detected disease-causing mutations were found. Among those mutations, one is a frameshift mutation and others are single base transition. Conclusion This research confirmed that ABCR gene is associated with Stargardt disease, and 3 new mutations of ABCR gene were found. (Chin J Ocul Fundus Dis,2000,16:240-243)

      Release date:2016-09-02 06:05 Export PDF Favorites Scan
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