Accession number: U14528
Gene: EDATA/DTD
Chromosome: chrm_5

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 F8 gene.
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