Three novel mutations in the protoporphyrinogen oxidase gene in Japanese patients with variegate porphyria.
Maeda
N
N
Second Department of Internal Medicine, Faculty of Medicine, Tottori University, Yonago, Japan. nmaeda@grape.med.tottori-u.ac.jp
Horie
Y
Y
Sasaki
Y
Y
Adachi
K
K
Nanba
E
E
Nishida
K
K
Saigo
R
R
Nakagawa
M
M
Kawasaki
H
H
Kudo
Y
Y
Kondo
M
M
D000328:Adult; D000595:Amino Acid Sequence; D004247:DNA / Q000097:blood; D018076:DNA, Complementary / Q000032:analysis; D005260:Female; D005420:Flavoproteins; D005820:Genetic Testing; D006801:Humans; D007564:Japan; D008297:Male; D024101:Mitochondrial Proteins; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010088:Oxidoreductases / Q000737:chemistry / Q000235:genetics*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017094:Porphyrias, Hepatic / Q000235:genetics*; D050768:Protoporphyrinogen Oxidase; D016415:Sequence Alignment
D018076:DNA, Complementary; D005420:Flavoproteins; D024101:Mitochondrial Proteins; D004247:DNA; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C493978:PPOX protein, human; D050768:Protoporphyrinogen Oxidase