- 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
- Publisher copy:
- 10.1136/jmg.2008.059881
-
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- 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
- Copyright date:
- 2009
Journal article
ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing.
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