Link to the Reference Paper. The accession number of this mRNA is M14016
.
The following files contain the results of information analyses of mutations confirmed or predicted to result in mRNA splicing mutations in UROD.
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 Mutation in Brief #406 (2001) Online MUTATION IN BRIEF Seven Novel Point Mutations in the Uroporphyrinogen Decarboxylase (UROD) Gene in Patients With Familial Porphyria Cutanea Tarda (f-PCT) M.D. Cappellini1, F. Martinez di Montemuros 1, D. Tavazzi1, S. Fargion1, A. Pizzuti2, A. Comino1, T. Cainelli3, and G. Fiorelli1 1Centro Anemie Congenite, Ospedale Maggiore Policlinico IRCCS, Dipartimento di Medicina Interna, University of Milan, Italy 2Istituto di Clinica Neurologica, Ospedale Maggiore Policlinico IRCCS, University of Milan, Italy 3Clinica Dermatologica V, Ospedali Riuniti di Bergamo, University of Milan, Italy