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 LI1s.
These include potential cryptic splice sites.
Donor: sites found that alter the information content of donorsites
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: HUMAN MUTATION 19:4 15 (2002) MUTATION UPDATE Clinical and Molecular Basis of Classical Lissencephaly: Mutations in the LIS1 Gene (PAFAH1B1) Carlos Cardoso,1 Richard J. Leventer,1,2 James J. Dowling,1,3 Heather L. Ward,1 June Chung,1 Kristin S. Petras,1 Jessica A. Roseberry,1 Ann M. Weiss,1 Soma Das,1 Christa Lese Martin,1 Daniela T. Pilz,4 William B. Dobyns,1,2,3 and David H. Ledbetter1,3* 1 Department of Human Genetics, University of Chicago, Chicago, Illinois 2 Department of Neurology, University of Chicago, Chicago, Illinois 3 Department of Pediatrics, University of Chicago, Chicago, Illinois 4 Institute for Medical Genetics, University Hospital of Wales, Cardiff, UK
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