Journal article icon

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...

Expand abstract
Publication status:
Published

Actions


Access Document


Publisher copy:
10.1136/jmg.2008.059881

Authors


Burgess, R More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience, Biomedical Research Centre
Davidson, AE More by this author
Urquhart, JE More by this author
Holder, GE More by this author
Expand authors...
Journal:
Journal of medical genetics
Volume:
46
Issue:
9
Pages:
620-625
Publication date:
2009-09-05
DOI:
EISSN:
1468-6244
ISSN:
0022-2593
URN:
uuid:baf7a51e-dac2-498d-ac27-5fe659f2aaf0
Source identifiers:
107255
Local pid:
pubs:107255

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