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

Burgess, R

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