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Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia.
Hira, Asuka; Yoshida, Kenichi; Sato, Koichi; Okuno, Yusuke; Shiraishi, Yuichi; Chiba, Kenichi; Tanaka, Hiroko; Miyano, Satoru; Shimamoto, Akira; Tahara, Hidetoshi; Ito, Etsuro; Kojima, Seiji; Kurumizaka, Hitoshi; Ogawa, Seishi; Takata, Minoru; Yabe, Hiromasa; Yabe, Miharu.
Afiliação
  • Hira A; Laboratory of DNA Damage Signaling, Department of Late Effects Studies, Radiation Biology Center, Kyoto University, Kyoto 606-8501, Japan.
  • Yoshida K; Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto 606-8501, Japan.
  • Sato K; Laboratory of Structural Biology, Graduate School of Advanced Science and Engineering, Waseda University, Tokyo 162-8480, Japan.
  • Okuno Y; Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan.
  • Shiraishi Y; Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo 108-8639, Japan.
  • Chiba K; Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo 108-8639, Japan.
  • Tanaka H; Laboratory of Sequence Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo 108-8639, Japan.
  • Miyano S; Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo 108-8639, Japan; Laboratory of Sequence Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo 108-8639, Japan.
  • Shimamoto A; Department of Cellular and Molecular Biology, Graduate School of Biomedical & Health Sciences, Hiroshima University, Minami-ku, Hiroshima 734-8551, Japan.
  • Tahara H; Department of Cellular and Molecular Biology, Graduate School of Biomedical & Health Sciences, Hiroshima University, Minami-ku, Hiroshima 734-8551, Japan.
  • Ito E; Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki 036-8562, Japan.
  • Kojima S; Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan.
  • Kurumizaka H; Laboratory of Structural Biology, Graduate School of Advanced Science and Engineering, Waseda University, Tokyo 162-8480, Japan.
  • Ogawa S; Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto 606-8501, Japan.
  • Takata M; Laboratory of DNA Damage Signaling, Department of Late Effects Studies, Radiation Biology Center, Kyoto University, Kyoto 606-8501, Japan. Electronic address: mtakata@house.rbc.kyoto-u.ac.jp.
  • Yabe H; Department of Cell Transplantation and Regenerative Medicine, Tokai University School of Medicine, Isehara 259-1193, Japan.
  • Yabe M; Department of Cell Transplantation and Regenerative Medicine, Tokai University School of Medicine, Isehara 259-1193, Japan.
Am J Hum Genet ; 96(6): 1001-7, 2015 Jun 04.
Article em En | MEDLINE | ID: mdl-26046368

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Modelos Moleculares / Mutação de Sentido Incorreto / Enzimas de Conjugação de Ubiquitina / Anemia de Fanconi Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Am J Hum Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Japão

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Modelos Moleculares / Mutação de Sentido Incorreto / Enzimas de Conjugação de Ubiquitina / Anemia de Fanconi Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Am J Hum Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Japão