ABCA4 and ROM1: Implications for modification of the PRPH2-associated macular dystrophy phenotype

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

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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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