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Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma

Fernández-Martínez, L, Letteboer, S, Mardin, C Y, Weisschuh, N, Gramer, E, Weber, Bernhard H. F. , Rautenstrauss, B, Ferreira, P A, Kruse, F E, Reis, A, Roepman, R and Pasutto, F (2011) Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma. European Journal of Human Genetics 19 (4), pp. 445-451.

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Abstract

Glaucoma is a genetically heterogeneous disorder and is the second cause of blindness worldwide owing to the progressive degeneration of retinal ganglion neurons. Very few genes causing glaucoma were identified to this date. In this study, we screened 10 candidate genes of glaucoma between the D14S261 and D14S121 markers of chromosome 14q11, a critical region previously linked to primary ...

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Item type:Article
Date:2011
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1038/ejhg.2010.217DOI
21224891PubMed ID
Keywords:glaucoma; RPGRIP1; mutation screening
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:35491
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