A novel mutation (1320InsT) identified in two Argentine families with variegate porphyria.
Siervi
A D
AD
Centro de Investigaciones sobre Porfirinas y Porfirias, CONICET and Fac. Ciencias Exactas y Naturales, University of Buenos Aires, Argentina.
Parera
V E
VE
Varela
L S
LS
Batlle
A M
AM
Rossetti
M V
MV
D001118:Argentina / Q000453:epidemiology; D005420:Flavoproteins; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D024101:Mitochondrial Proteins; D016254:Mutagenesis, Insertional / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D010088:Oxidoreductases / Q000235:genetics*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D017094:Porphyrias, Hepatic / Q000201:enzymology* / Q000235:genetics*; D011166:Porphyrins / Q000378:metabolism*; D050768:Protoporphyrinogen Oxidase
D005420:Flavoproteins; D024101:Mitochondrial Proteins; D011166:Porphyrins; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C493978:PPOX protein, human; D050768:Protoporphyrinogen Oxidase