Inventors:
Michael L. Klein - Portland OR, US
Dennis Schultz - Portland OR, US
Assignee:
Oregon Health & Sciences University - Portland OR
International Classification:
C12Q 1/68
Abstract:
The present invention describes the identification of a mutation in a human FIBL-6 protein, which mutation is associated with Familial Age-Related Macular Degeneration. Transcripts and products of this mutated gene are useful in detecting and diagnosing AMD, developing therapeutics for treatment of AMD, as well as the isolation and manufacture of the protein and the constructions of transgenic animals expressing the mutant genes.