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ATP11C T418N, a gene mutation causing congenital hemolytic anemia, reduces flippase activity due to improper membrane trafficking.
Arashiki, Nobuto; Niitsuma, Kusumi; Seki, Momoko; Takakuwa, Yuichi; Nakamura, Fumio.
Affiliation
  • Arashiki N; Department of Biochemistry, School of Medicine, Tokyo Women's Medical University, Tokyo, 162-8666, Japan. Electronic address: arashiki.nobuto@twmu.ac.jp.
  • Niitsuma K; Department of Biochemistry, School of Medicine, Tokyo Women's Medical University, Tokyo, 162-8666, Japan.
  • Seki M; Department of Biochemistry, School of Medicine, Tokyo Women's Medical University, Tokyo, 162-8666, Japan.
  • Takakuwa Y; Department of Biochemistry, School of Medicine, Tokyo Women's Medical University, Tokyo, 162-8666, Japan.
  • Nakamura F; Department of Biochemistry, School of Medicine, Tokyo Women's Medical University, Tokyo, 162-8666, Japan. Electronic address: nakamura.fumio@twmu.ac.jp.
Biochem Biophys Res Commun ; 516(3): 705-712, 2019 08 27.
Article in En | MEDLINE | ID: mdl-31253392

Full text: 1 Database: MEDLINE Main subject: Membrane Transport Proteins / Adenosine Triphosphatases / Genetic Predisposition to Disease / Mutation, Missense / Anemia, Hemolytic, Congenital Limits: Animals / Female / Humans / Male Language: En Journal: Biochem Biophys Res Commun Year: 2019 Type: Article

Full text: 1 Database: MEDLINE Main subject: Membrane Transport Proteins / Adenosine Triphosphatases / Genetic Predisposition to Disease / Mutation, Missense / Anemia, Hemolytic, Congenital Limits: Animals / Female / Humans / Male Language: En Journal: Biochem Biophys Res Commun Year: 2019 Type: Article