Link to the Reference Paper. The accession number of this mRNA is U14528 .
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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