Functional analysis and classification of homozygous and hypomorphic ABCA4 variants associated with Stargardt macular degeneration
Author:
Affiliation:
1. Department of Biochemistry and Molecular Biology University of British Columbia Vancouver British Columbia Canada
2. Department of Ophthalmology and Visual Sciences University of British Columbia Vancouver British Columbia Canada
Funder
National Eye Institute
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24100
Reference62 articles.
1. Functional Interaction between the Two Halves of the Photoreceptor-specific ATP Binding Cassette Protein ABCR (ABCA4)
2. [57] Purification and characterization of ABCR from bovine rod outer segments
3. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy
4. N-Retinylidene-phosphatidylethanolamine Is the Preferred Retinoid Substrate for the Photoreceptor-specific ABC Transporter ABCA4 (ABCR)
5. Lipofuscin and N-Retinylidene-N-Retinylethanolamine (A2E) Accumulate in Retinal Pigment Epithelium in Absence of Light Exposure
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