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 DTD.
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 17:159?171 (2001) MUTATION UPDATE Mutations in the Diastrophic Dysplasia Sulfate Transporter (DTDST) Gene (SLC26A2): 22 Novel Mutations, Mutation Review, Associated Skeletal Phenotypes, and Diagnostic Relevance Antonio Rossi1,2 and Andrea Superti-Furga1* 1 Division of Metabolic and Molecular Pediatrics, University Children~Rs Hospital, Zurich, Switzerland 2 Department of Biochemistry, ~SAlessandro Castellani~T, University of Pavia, Pavia, Italy
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