Link to the Reference Paper. The accession number of this mRNA is AJ222967 .
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, HoÆpital Necker-Enfants Malades, Universite´ Rene´ Descartes, Paris, France; 

 2 Department of Pediatrics, HoÆpital 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, HoÆpital Necker-Enfants Malades, Universite´ Rene´ Descartes, Paris, France e

 7 Department of Medicine, Centre Hospitalier, Annonay, France e 

 

 

 

 

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