Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutaneous.
Brancaleoni
Valentina
V
Department of Internal Medicine-University of Milan. Centro Anemie Congenite-Maggiore Policlinico, Mangiagalli and Regina Elena Hospital IRCCS., Milano, F. Sforza, 35, 20122, Milano, Italy.
Di Pierro
E
E
Besana
V
V
Ausenda
S
S
Cappellini
M D
MD
D019943:Amino Acid Substitution; D003062:Codon / Q000235:genetics; D006801:Humans; D020125:Mutation, Missense; D017119:Porphyria Cutanea Tarda / Q000201:enzymology / Q000235:genetics*; D014575:Uroporphyrinogen Decarboxylase / Q000235:genetics*
D003062:Codon; D014575:Uroporphyrinogen Decarboxylase