The absence of fundus abnormalities in Stargardt disease-Reference-Cited by-同舟云学术

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The absence of fundus abnormalities in Stargardt disease

Published:2019-03-22 Issue:6 Volume:257 Page:1147-1157
ISSN:0721-832X
Container-title:Graefe's Archive for Clinical and Experimental Ophthalmology
language:en
Short-container-title:Graefes Arch Clin Exp Ophthalmol

Author:

Bax Nathalie M.,Lambertus Stanley,Cremers Frans P. M.,Klevering B. Jeroen,Hoyng Carel B.

Funder

Stichting A.F. Deutman Oogheelkunde Researchfonds

Nederlandse Oogonderzoek Stichting

UitZicht

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology

Link

http://link.springer.com/content/pdf/10.1007/s00417-019-04280-8.pdf

Reference26 articles.

1. Blacharski P (1988) Retinal dystrophies and degenerations. Newsome DA (ed): 135–159

2. Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, Peiffer A, Zabriskie NA, Li Y, Hutchinson A, Dean M, Lupski JR, Leppert M (1997) Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science (New York, NY) 277: 1805–1807

3. Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B, Baird L, Stauffer D, Peiffer A, Rattner A, Smallwood P, Li Y, Anderson KL, Lewis RA, Nathans J, Leppert M, Dean M, Lupski JR (1997) A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 15:236–246. https://doi.org/10.1038/ng0397-236

4. Cornelis SS, Bax NM, Zernant J, Allikmets R, Fritsche LG, den Dunnen JT, Ajmal M, Hoyng CB, Cremers FP (2017) In silico functional meta-analysis of 5,962 ABCA4 variants in 3,928 retinal dystrophy cases. Hum Mutat 38:400–408. https://doi.org/10.1002/humu.23165

5. Lambertus S, van Huet RA, Bax NM, Hoefsloot LH, Cremers FP, Boon CJ, Klevering BJ, Hoyng CB (2015) Early-onset Stargardt disease: phenotypic and genotypic characteristics. Ophthalmology 122:335–344. https://doi.org/10.1016/j.ophtha.2014.08.032

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