Joensuu, T

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