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 CTNS.
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
References: HUMAN MUTATION 20:439^446 (2002) RESEARCH ARTICLE Identification of 14 Novel CTNS Mutations and Characterization of Seven Splice Site Mutations Associated With Cystinosis Vasiliki Kalatzis, 1 Lola Cohen-Solal,1 Be´atrice Cordier,2 Yaacov Frishberg,3 Markus Kemper,4 E. Matti Nuutinen,5 Eric Legrand,7 Pierre Cochat,2 and Corinne Antignac1,6n 1 Inserm U423, HoĈpital Necker-Enfants Malades, Universite´ Rene´ Descartes, Paris, France; 2 Department of Pediatrics, HoĈpital Edouard Herriot, Universite´ Claude Bernard, Lyon, France; 3 Division of Pediatric Nephrology, Shaare Zedek Medical Center, Jerusalem, Israel; 4 Department of Pediatric Nephrology, University Children s Hospital, Zu¨rich, Switzerland; 5 Department of Pediatrics, University of Oulu, Oulu, Finland; 6 Department of Genetics, HoĈpital Necker-Enfants Malades, Universite´ Rene´ Descartes, Paris, France e 7 Department of Medicine, Centre Hospitalier, Annonay, France e
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