TY  - GEN
AU  - Burgess,R
AU  - MacLaren,R E
AU  - Davidson,A E
AU  - Urquhart,J E
AU  - Holder,G E
AU  - Robson,A G
AU  - Moore,A T
AU  - Keefe,R O'
AU  - Black,G C M
AU  - Manson,F D C
TI  - ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing
SN  - 1468-6244
PY  - 2009///1231
KW  - Adult
KW  - Base Sequence
KW  - Bestrophins
KW  - Chloride Channels
KW  - genetics
KW  - Choroid Diseases
KW  - Exons
KW  - Eye Proteins
KW  - Female
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Pedigree
KW  - Protein Binding
KW  - RNA Splicing
KW  - RNA, Messenger
KW  - Retinal Diseases
KW  - Sequence Alignment
N1  - Publication Type: Letter; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jmg.2008.059881
ER  -