NOVEL BEST1 MUTATIONS DETECTED BY NEXT-GENERATION SEQUENCING IN A CHINESE POPULATION WITH VITELLIFORM MACULAR DYSTROPHY.
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DOI: 10.1097/iae.0000000000002183
Abstract: PURPOSE To characterize novel BEST1 mutations and the phenotype-genotype correlations in vitelliform macular dystrophy in a Chinese population. METHODS Seventeen individuals affected by vitelliform macular dystrophy underwent detailed ophthalmic examinations, including a best-corrected visual acuity… read more here.
Keywords: macular dystrophy; vitelliform macular; novel best1; best1 mutations ... See more keywords