Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. [electronic resource]
- American journal of human genetics Oct 2001
- 673-84 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
0002-9297
10.1086/323610 doi
Abnormalities, Multiple--genetics Base Sequence Chromosomes, Human, Pair 3--genetics Cloning, Molecular Contig Mapping Deafness--genetics Expressed Sequence Tags Female Finland Founder Effect Gene Expression Profiling Genetic Linkage--genetics Haplotypes--genetics Humans Linkage Disequilibrium--genetics Male Membrane Proteins--chemistry Molecular Sequence Data Mutation--genetics Pedigree Protein Structure, Secondary Protein Structure, Tertiary RNA, Messenger--analysis Retina--metabolism Retinal Degeneration--genetics Syndrome