Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients
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DOI: 10.1038/s41598-018-27951-8
Abstract: Bestinopathies are a spectrum of retinal disorders associated with mutations in BEST1 including autosomal recessive bestrophinopathy (ARB) and autosomal dominant Best vitelliform macular dystrophy (BVMD). We applied whole-exome sequencing on four unrelated Indian families comprising… read more here.
Keywords: family; best1 mutations; sequencing identifies; best1 ... See more keywords
NOVEL BEST1 MUTATIONS DETECTED BY NEXT-GENERATION SEQUENCING IN A CHINESE POPULATION WITH VITELLIFORM MACULAR DYSTROPHY.
Sign Up to like & getrecommendations! Published in 2018 at "Retina"
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