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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.
Date of publication of this fulltext: 07 Jul 2017 08:32
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| Item type | Article | ||||||
| Journal or Publication Title | Ophthalmic Genetics | ||||||
| Publisher: | TAYLOR & FRANCIS INC | ||||||
|---|---|---|---|---|---|---|---|
| Place of Publication: | PHILADELPHIA | ||||||
| Volume: | 27 | ||||||
| Page Range: | pp. 139-144 | ||||||
| Date | 2006 | ||||||
| Institutions | Medicine > Lehrstuhl für Humangenetik | ||||||
| Identification Number |
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| Keywords | DOMINANT RETINITIS-PIGMENTOSA; DEGENERATION SLOW GENE; MACULAR DYSTROPHY; RDS GENE; PHOTORECEPTOR PERIPHERIN/RDS; ARG195LEU MUTATION; NEOVASCULARIZATION; MEMBRANES; DELETION; MODEL; 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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