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Garces, Fabian ; Jiang, Kailun ; Molday, Laurie L. ; Stöhr, Heidi ; Weber, Bernhard H. ; Lyons, Christopher J. ; Maberley, David ; Molday, Robert S.

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.



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Details

Item typeArticle
Journal or Publication TitleInvestigative Opthalmology & Visual Science
PublisherASSOC RESEARCH VISION OPHTHALMOLOGY INC
Place of PublicationROCKVILLE
Volume59
Number of Issue or Book Chapter6
Page Rangep. 2305
Date2018
Date of publication28 Jul 2021 17:19
InstitutionsMedicine > Lehrstuhl für Humangenetik
Identification Number
ValueType
10.1167/iovs.17-23364DOI
KeywordsVISUAL-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 Classification600 Technology > 610 Medical sciences Medicine
StatusPublished
RefereedYes, this version has been refereed
Created at the University of RegensburgYes
Item ID47235

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