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Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions

Brandl, Caroline , Schulz, Heidi, Charbel Issa, Peter, Birtel, Johannes, Bergholz, Richard, Lange, Clemens, Dahlke, Claudia, Zobor, Ditta, Weber, Bernhard and Stöhr, Heidi (2017) Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions. Genes 8 (170), pp. 1-14.

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Date of publication of this fulltext: 05 Dec 2017 14:42

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Other URL: http://doi.org/10.3390/genes8070170, http://www.mdpi.com/2073-4425/8/7/170

Dieser Artikel ist in einer Zeitschrift aus dem Directory of Open Access (DOAJ) publiziert.


Abstract

A significant portion of patients diagnosed with vitelliform macular dystrophy (VMD) do not carry causative mutations in the classic VMD genes BEST1 or PRPH2. We therefore performed a mutational screen in a cohort of 106 BEST1/PRPH2-negative VMD patients in two genes encoding secreted interphotoreceptor matrix proteoglycans-1 and -2 (IMPG1 and IMPG2). We identified two novel mutations in IMPG1 in ...

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Item type:Article
Date:23 June 2017
Institutions:Medicine > Lehrstuhl für Augenheilkunde
Medicine > Lehrstuhl für Humangenetik
Medicine > Institut für Epidemiologie und Präventivmedizin
Projects:Open Access Publizieren (DFG)
Identification Number:
ValueType
10.3390/genes8070170DOI
Keywords:RETINITIS-PIGMENTOSA; DYSTROPHY; PROTEIN; vitelliform macular dystrophy; IMPG1; IMPG2; interphotoreceptor matrix; optical coherence tomography
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:36413
Owner only: item control page

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