ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing. [electronic resource]
- Journal of medical genetics Sep 2009
- 620-5 p. digital
Publication Type: Letter; Research Support, Non-U.S. Gov't
1468-6244
10.1136/jmg.2008.059881 doi
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