ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing. [electronic resource]
Producer: 20091231Description: 620-5 p. digitalISSN:- 1468-6244
- Adult
- Base Sequence
- Bestrophins
- Chloride Channels -- genetics
- Choroid Diseases -- genetics
- Exons
- Eye Proteins -- genetics
- Female
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Pedigree
- Protein Binding
- RNA Splicing -- genetics
- RNA, Messenger -- genetics
- Retinal Diseases -- genetics
- Sequence Alignment
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Publication Type: Letter; Research Support, Non-U.S. Gov't
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