Link to the
Reference Paper. The accession number of this mRNA is
The following files contain the results of information analyses of mutations confirmed or predicted to result in mRNA splicing mutations in CHM.
These include potential cryptic splice sites.
Acceptor: sites found that alter the information content of acceptor sites
Unparsable Inconsistencies between the described mutation and the human genome reference sequence, "presently not posted"
Total: sites found that alter the information ocontent of both acceptor and donor sites are listed according to the mutation
Original: : Original Mutation Table
Reference: RESEARCH ARTICLE Mutational Analysis of Patients With the Diagnosis of Choroideremia Kerry E. McTaggart, Mai Tran, Dean Y. Mah, Sarah W. Lai, Nancy J. Nesslinger, and Ian M. MacDonaldn Ocular Genetics Laboratory, Department of Ophthalmology, University of Alberta, Edmonton, Canada HUMAN MUTATION 20:189^196 (2002)
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