M14016

chrm_1

Table 2. UROD mutations and enzyme activity in 10 PCT patients.

Patient Mutation Exon Codon change URO-D (% of N)

1 425G>A 5 R142Q 77

3 482T>A 6 L161Q 76

4 616C>T 6 Q206X 56

5 656C>T 7 S219F 55

8 IVS8-1G>C IVS8 exon 9 del/stop+6 67

9 1107G>A 10 3’UTR 76

http://www.genome.ucsc.edu/cgi-bin/hgc?hgsid=22835108&o=44907750&t=44911076&g=mrna&i=M14016&c=chr1&l=44907750&r=44911076&db=hg15&pix=610

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Search&db=Nucleotide&term=M14016&doptcmdl=GenBank&tool=genome.ucsc.edu

Information on mRNA M14016

Description: Human uroporphyrinogen decarboxylase mRNA, complete cds.

Gene: UROD

Product: n/a

Author: Romeo,P.H., Raich,N., Dubart,A., Beaupain,D., Pryor,M., Kushner,J., Cohen-Solal,M. and Goossens,M.

Organism: Homo sapiens

Tissue: n/a

Development stage: n/a

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

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