Lack of the R59W South African founder effect mutation in protoporphyrinogen oxidase in a British patient with homozygous variegate porphyria.
McGrath
J A
JA
Hawk
J L
JL
Graham
R M
RM
Christiano
A M
AM
D005420:Flavoproteins; D006720:Homozygote; D006801:Humans; D024101:Mitochondrial Proteins; D009154:Mutation; D010088:Oxidoreductases / Q000235:genetics*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D017094:Porphyrias, Hepatic / Q000235:genetics*; D050768:Protoporphyrinogen Oxidase
D005420:Flavoproteins; D024101:Mitochondrial Proteins; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C493978:PPOX protein, human; D050768:Protoporphyrinogen Oxidase