Journal article icon

Journal article

Variations in opsin coding sequences cause x-linked cone dysfunction syndrome with myopia and dichromacy.

Abstract:

PURPOSE: To determine the role of variant L opsin haplotypes in seven families with Bornholm Eye Disease (BED), a cone dysfunction syndrome with dichromacy and myopia. METHODS: Analysis of the opsin genes within the L/M opsin array at Xq28 included cloning and sequencing of an exon 3-5 gene fragment, long range PCR to establish gene order, and quantitative PCR to establish gene copy number. In vitro expression of normal and variant opsins was performed to examine cellular trafficking and spec...

Expand abstract
Publication status:
Published online

Actions


Access Document


Publisher copy:
10.1167/iovs.12-11156

Authors


More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neurosciences
Role:
Author
Expand authors...
Journal:
Investigative ophthalmology and visual science
Volume:
54
Issue:
2
Pages:
1361-1369
Publication date:
2013-02-15
DOI:
EISSN:
1552-5783
ISSN:
0146-0404
URN:
uuid:018fc86e-7b40-41db-b2ff-643a2b825013
Source identifiers:
374256
Local pid:
pubs:374256

Terms of use


Metrics



If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP