New type of mutations in three spanish families with choroideremia. [electronic resource]
- Investigative ophthalmology & visual science Apr 2008
- 1315-21 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0146-0404
10.1167/iovs.07-1169 doi
Adaptor Proteins, Signal Transducing--genetics Blotting, Southern Choroideremia--genetics DNA Mutational Analysis Female Haplotypes Humans Immunoblotting Male Mutation Pedigree Polymerase Chain Reaction RNA, Messenger--genetics Spain White People--genetics rab GTP-Binding Proteins--genetics