Accession number: M14016
Gene: UROD
Chromosome: chrm_1

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


 HUMAN MUTATION Mutation in Brief #406 (2001) Online


 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




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