Novel mutation of methylmalonyl-CoA mutase gene causing the mut0 form of methylmalonic acidemia in a Japanese girl.
Oyama
Chikako
C
Department of Pediatrics, Akita University School of Medicine, Akita, Japan.
Takahashi
Tsutomu
T
Matsumori
Mika
M
Shoji
Yutaka
Y
Tajima
Gou
G
Sakura
Nobuo
N
Hasegawa
Yuki
Y
Yamaguchi
Seiji
S
Kakinuma
Hiroaki
H
Takada
Goro
G
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D018389:Codon, Nonsense; D005260:Female; D006801:Humans; D007223:Infant; D007564:Japan; D008764:Methylmalonic Acid / Q000097:blood*; D008765:Methylmalonyl-CoA Mutase / Q000172:deficiency / Q000235:genetics*; D010641:Phenotype
D018389:Codon, Nonsense; D008764:Methylmalonic Acid; D008765:Methylmalonyl-CoA Mutase