Best's macular dystrophy gene
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United States of America Patent
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-
Feb 28, 2006
Grant Date -
N/A
app pub date -
Feb 22, 1999
filing date -
Feb 25, 1998
priority date (Note) -
Expired
status (Latency Note)
Importance
Abstract
Novel human and mouse DNA sequences that encode the gene CG1CE, which, when mutated, is responsible for Best's macular dystrophy, are provided. Provided are genomic CG1CE DNA as well as cDNA that encodes the CG1CE protein. Also provided is CG1CE protein encoded by the novel DNA sequences. Methods of expressing CG1CE protein in recombinant systems are provided. Also provided are diagnostic methods that detect patients having mutant CG1CE genes.
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