title: Novel mutation of methylmalonyl-CoA mutase gene causing the mut0 form of methylmalonic acidemia in a Japanese girl.
authors: Department of Pediatrics, Akita University School of Medicine, Akita, Japan.
authors: Chikako
authors: C
authors: Oyama
authors: Tsutomu
authors: T
authors: Takahashi
authors: Mika
authors: M
authors: Matsumori
authors: Yutaka
authors: Y
authors: Shoji
authors: Gou
authors: G
authors: Tajima
authors: Nobuo
authors: N
authors: Sakura
authors: Yuki
authors: Y
authors: Hasegawa
authors: Seiji
authors: S
authors: Yamaguchi
authors: Hiroaki
authors: H
authors: Kakinuma
authors: Goro
authors: G
authors: Takada
mesh_terms: 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
chemical_list: D018389:Codon, Nonsense; D008764:Methylmalonic Acid; D008765:Methylmalonyl-CoA Mutase