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Novel mutation in BEST1 associated with retinoschisis
Journal article   Open access  Peer reviewed

Novel mutation in BEST1 associated with retinoschisis

Ruwan A Silva, Audina M Berrocal, Byron L Lam and Thomas A Albini
JAMA ophthalmology, Vol.131(6), pp.794-5
2013-06
DOI: https://doi.org/10.1001/jamaophthalmol.2013.2047
PMID: 23572118

Abstract

Electrooculography Humans Male Chloride Channels - genetics Mutation, Missense Retinoschisis - diagnosis Vitelliform Macular Dystrophy - physiopathology Retinoschisis - physiopathology Bestrophins Vitelliform Macular Dystrophy - genetics DNA Mutational Analysis Female Eye Proteins - genetics Child Fluorescein Angiography Siblings Electroretinography Genetic Predisposition to Disease Tomography, Optical Coherence Vitelliform Macular Dystrophy - diagnosis Retinoschisis - genetics Visual Acuity Chloride Channels - metabolism Phenotype Eye Proteins - metabolism
url
https://doi.org/10.1001/jamaophthalmol.2013.2047View
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11 Record Views
10 Times Cited - Web of Science

InCites Highlights

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Collaboration types
Domestic collaboration
Citation topics
1 Clinical & Life Sciences
1.36 Ophthalmology
1.36.212 Retina
Web Of Science research areas
Ophthalmology
ESI research areas
Clinical Medicine

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#3 Good Health and Well-Being

Source: InCites

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