Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease
Article
Garces, Fabian, Jiang, Kailun, Molday, Laurie L., Stöhr, Heidi, Weber, Bernhard H., Lyons, Christopher J., Maberley, David and Molday, Robert S. (2018) Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease. Investigative Opthalmology & Visual Science 59 (6), p. 2305.Alternative links to fulltext
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| Item type | Article | ||||
| Journal or Publication Title | Investigative Opthalmology & Visual Science | ||||
| Publisher | ASSOC RESEARCH VISION OPHTHALMOLOGY INC | ||||
| Place of Publication | ROCKVILLE | ||||
| Volume | 59 | ||||
| Number of Issue or Book Chapter | 6 | ||||
| Page Range | p. 2305 | ||||
| Date | 2018 | ||||
| Date of publication | 28 Jul 2021 17:19 | ||||
| Institutions | Medicine > Lehrstuhl für Humangenetik | ||||
| Identification Number |
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| Keywords | VISUAL-ACUITY LOSS; N-RETINYLIDENE-PHOSPHATIDYLETHANOLAMINE; RECESSIVE RETINITIS-PIGMENTOSA; TRANSPORTER GENE ABCR; ROD OUTER SEGMENTS; MACULAR DEGENERATION; FUNDUS FLAVIMACULATUS; RETINAL DYSTROPHY; DARK-ADAPTATION; RIM PROTEIN; Stargardt disease; ABCA4; protein expression; pnenotype-genotype; functional activity | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 47235 |
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