TY  - GEN
AU  - Radziwon,Alina
AU  - Arno,Gavin
AU  - K Wheaton,Dianna
AU  - McDonagh,Ellen M
AU  - Baple,Emma L
AU  - Webb-Jones,Kaylie
AU  - G Birch,David
AU  - Webster,Andrew R
AU  - MacDonald,Ian M
TI  - Single-base substitutions in the CHM promoter as a cause of choroideremia
SN  - 1098-1004
PY  - 2018///0220
KW  - Adaptor Proteins, Signal Transducing
KW  - genetics
KW  - Choroideremia
KW  - complications
KW  - Female
KW  - Genetic Diseases, X-Linked
KW  - Genetic Predisposition to Disease
KW  - Humans
KW  - Male
KW  - Mutation
KW  - Pedigree
KW  - Promoter Regions, Genetic
KW  - Retina
KW  - metabolism
KW  - Retinal Degeneration
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.23212
ER  -