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Journal article

ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing.

Abstract:

Autosomal dominant vitreoretinochoroidopathy (ADVIRC), a retinal dystrophy often associated with glaucoma and cataract, forms part of a phenotypic spectrum of 'bestrophinopathies'. It has been shown previously that ADVIRC results from BEST1 mutations that cause exon skipping and lead to the production of shortened and internally deleted isoforms. This study describes a novel ADVIRC mutation and show that it disrupts an exonic splice enhancer (ESE) site, altering the binding of a splicing-asso...

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Publication status:
Published

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Publisher copy:
10.1136/jmg.2008.059881

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Institution:
University of Oxford
Division:
MPLS
Department:
Engineering Science
Sub department:
Institute of Biomedical Engineering
Role:
Author
Journal:
Journal of medical genetics
Volume:
46
Issue:
9
Pages:
620-625
Publication date:
2009-09-01
DOI:
EISSN:
1468-6244
ISSN:
0022-2593
Language:
English
Keywords:
Pubs id:
pubs:107255
UUID:
uuid:baf7a51e-dac2-498d-ac27-5fe659f2aaf0
Local pid:
pubs:107255
Source identifiers:
107255
Deposit date:
2012-12-19

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