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)
Citation： Le Meihua,Wu Lezheng,Chen Youzhao,et al.. Stargardt is disease and mutations of ABCR gene. Chinese Journal of Ocular Fundus Diseases, 2000, 16(4): 240-243. doi: Copy