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Journal Articles (3)

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Investigative Ophthalmology & Visual Science (3)

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Genetics (1)
Letters to the Editor (1)
Retina (1)

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Genetics (3)
Eye Anatomy and Disorders (1)
Retina (1)

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alleles (2)
penetrance, genetic (2)
stargardt's disease (2)
age of onset (1)
autosomal recessive inheritance (1)
cohort studies (1)
family (1)
genes (1)
introns (1)
mutation (1)

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Retina October 2019

Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles

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Esmee H. Runhart; Dyon Valkenburg; Stéphanie S. Cornelis; Mubeen Khan; Riccardo Sangermano; Silvia Albert; Nathalie M. Bax; Galuh D. N. Astuti; Christian Gilissen; Jan-Willem R. Pott; Joke B. G. M. Verheij; Ellen A. W. Blokland; Frans P. M. Cremers; L. Ingeborgh van den Born; Carel B. Hoyng
TAGS: alleles, introns, penetrance, genetic, stargardt's disease, cohort studies, photoreceptors, age of onset, stem cells
Invest. Ophthalmol. Vis. Sci.. 2019; 60(13):4249-4256. https://doi.org/10.1167/iovs.19-27524

Includes: Supplemental Content

Letters to the Editor November 2018

Author Response: Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease

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Frans P. M. Cremers; Stéphanie S. Cornelis; Esmee H. Runhart; Galuh D. N. Astuti
TAGS: alleles, penetrance, genetic, stargardt's disease
Invest. Ophthalmol. Vis. Sci.. 2018; 59(13):5566-5568. https://doi.org/10.1167/iovs.18-25944

Includes: Supplemental Content

Genetics November 2016

Mutations in AGBL5 , Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa

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Galuh D. N. Astuti; Gavin Arno; Sarah Hull; Laurence Pierrache; Hanka Venselaar; Keren Carss; F. Lucy Raymond; Rob W. J. Collin; Sultana M. H. Faradz; L. Ingeborgh van den Born; Andrew R. Webster; Frans P. M. Cremers
TAGS: autosomal recessive inheritance, mutation, retinitis pigmentosa, tubulin, family, genes, proteins
Invest. Ophthalmol. Vis. Sci.. 2016; 57(14):6180-6187. https://doi.org/10.1167/iovs.16-20148

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Online ISSN: 1552-5783

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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