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Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure

Weber, Bernhard H. F. , Schrewe, H, Molday, L L, Gehrig, A, White, K L, Seeliger, M W, Jaissle, G B, Friedburg, C, Tamm, E and Molday, R S (2002) Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure. Proceedings of the National Academy of Sciences of the United States of America : PNAS 99 (9), pp. 6222-6227.

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Abstract

Deleterious mutations in RS1 encoding retinoschisin are associated with X-linked juvenile retinoschisis (RS), a common form of macular degeneration in males. The disorder is characterized by a negative electroretinogram pattern and by a splitting of the inner retina. To gain further insight into the function of the retinoschisin protein and its role in the cellular pathology of RS, we have ...

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Item type:Article
Date:2002
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1073/pnas.092528599DOI
11983912PubMed ID
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:No
Item ID:35543
Owner only: item control page

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