Poloschek, Charlotte M; Bach, Michael; Lagreze, W A; Glaus, Esther; Lemke, Johannes; Berger, Wolfgang; Neidhardt, John (2010). ABCA4 and ROM1: Implications for modification of the PRPH2-associated macular dystrophy phenotype. Investigative ophthalmology & visual science, 51(8), pp. 4253-65. Hagerstown, Md.: Association for Research in Vision and Ophthalmology 10.1167/iovs.09-4655
Full text not available from this repository. (Request a copy)To identify the causative mutation leading to autosomal dominant macular dystrophy, cone dystrophy, and cone-rod dystrophy in a five-generation family and to explain the high intrafamilial phenotypic variation by identifying possible modifier genes.
Item Type: |
Journal Article (Original Article) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine |
UniBE Contributor: |
Lemke, Johannes |
ISSN: |
0146-0404 |
Publisher: |
Association for Research in Vision and Ophthalmology |
Language: |
English |
Submitter: |
Anette van Dorland |
Date Deposited: |
04 Oct 2013 14:07 |
Last Modified: |
05 Dec 2022 14:00 |
Publisher DOI: |
10.1167/iovs.09-4655 |
PubMed ID: |
20335603 |
Web of Science ID: |
000280194100059 |
URI: |
https://boris.unibe.ch/id/eprint/174 (FactScience: 196610) |
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