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X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms

Molday, R. S., Kellner, U. and Weber, Bernhard H. F. (2012) X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms. Progress in Retinal and Eye Research 31 (3), pp. 195-212.

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Date of publication of this fulltext: 25 Jul 2017 06:13

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Other URL: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3334421/


Abstract

X-linked juvenile retinoschisis (XLRS, MIM 312700) is a common early onset macular degeneration in males characterized by mild to severe loss in visual acuity, splitting of retinal layers, and a reduction in the b-wave of the electroretinogram (ERG). The RS1 gene (MIM 300839) associated with the disease encodes retinoschisin, a 224 amino acid protein containing a discoidin domain as the major ...

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Item type:Article
Date:2012
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1016/j.preteyeres.2011.12.002DOI
22245536PubMed ID
Keywords:X-linked retinoschisis, Molecular genetics, Retinoschisin, Disease mechanisms, Clinical diagnosis, Gene therapy
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Partially
Item ID:36028
Owner only: item control page

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