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Late onset central areolar choroidal dystrophy caused by a heterozygous frame-shift mutation affecting codon 307 of the peripherin/RDS gene

Keilhauer, C N, Meigen, T, Stöhr, H and Weber, Bernhard H. F. (2006) Late onset central areolar choroidal dystrophy caused by a heterozygous frame-shift mutation affecting codon 307 of the peripherin/RDS gene. Ophthalmic Genetics 27, pp. 139-144.

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Abstract

Mutations in the peripherin/RDS gene have been identified in families with various retinopathies including those affecting primarily the macula and those restricted to the retinal periphery. Here, we describe the clinical findings of two sisters with late-onset central areolar choroidal dystrophy (CACD). The two siblings underwent genetic testing and were found to be carriers of a heterozygous ...

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Item type:Article
Date:2006
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1080/13816810600976822DOI
17148040PubMed ID
Keywords:Central areolar choroidal dystrophy (CACD), peripherin/RDS gene, codon 307, frame-shift mutation, age-related macular degeneration (AMD)
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:35838
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