Link to the Reference Paper. The accession number of this mRNA is U84007 .
The following files contain the results of information analyses of mutations confirmed or predicted to result in mRNA splicing mutations in AGL.
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:

 

 MUTATION IN BRIEF

  HUMAN MUTATION Mutation in Brief #564 (2002) O nline 

 Molecular Characterisation of GSD III Subjects and Identification of Six Novel Mutations in AGL 

 S. Lucchiari 1, M.A. Donati 2, R. Parini 3, D. Melis 4, R. Gatti 5, N. Bresolin 1,6, G. Scarlato 1, and G.P. Comi 1

 

 1 Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, I.R.C.C.S. Policlinico, Milan, Italy; 

 2 Meyer Children s Hospital, Section of Metabolic Diseases, Florence, Italy; 

 3 De Marchi Children s Clinic, I.C.P., Milano, Italy;

 4 Children s Clinic, University  Federico II  of Naples, Italy; 

 5 G. Gaslini Children s Insitute, Genova, Italy; 

 6 IRCCS E. Medea, Associazione La Nostra Famiglia. Bosisio Parini (LC), Italy

 

 

 

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