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Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing.
Ichimura, Takuya; Yoshida, Kenichi; Okuno, Yusuke; Yujiri, Toshiaki; Nagai, Kozo; Nishi, Masanori; Shiraishi, Yuichi; Ueno, Hiroo; Toki, Tsutomu; Chiba, Kenichi; Tanaka, Hiroko; Muramatsu, Hideki; Hara, Toshiro; Kanno, Hitoshi; Kojima, Seiji; Miyano, Satoru; Ito, Etsuro; Ogawa, Seishi; Ohga, Shouichi.
Afiliação
  • Ichimura T; Department of Pediatrics, Yamaguchi University Graduate School of Medicine, 1-1-1 Minami-kogushi, Ube, Yamaguchi, 755-8505, Japan.
  • Yoshida K; Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Yoshida-Konoe-cho, Sakyo-ku, Kyoto-shi, Kyoto, 606-8501, Japan.
  • Okuno Y; Department of Pediatrics, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
  • Yujiri T; Center for Advanced Medicine and Clinical Research, Nagoya University Hospital, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
  • Nagai K; Third Department of Internal Medicine, Yamaguchi University Graduate School of Medicine, 1-1-1 Minami-kogushi, Ube, Yamaguchi, 755-8505, Japan.
  • Nishi M; Department of Pediatrics, Faculty of Medicine, Saga University, 5-1-1 Nabeshima, Saga, 849-8501, Japan.
  • Shiraishi Y; Department of Pediatrics, Faculty of Medicine, Saga University, 5-1-1 Nabeshima, Saga, 849-8501, Japan.
  • Ueno H; Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo, 108-8639, Japan.
  • Toki T; Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Yoshida-Konoe-cho, Sakyo-ku, Kyoto-shi, Kyoto, 606-8501, Japan.
  • Chiba K; Department of Pediatrics, Hirosaki University Graduate School of Medicine, 5 Zaifu-cho, Hirosaki, Aomori, 036-8562, Japan.
  • Tanaka H; Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo, 108-8639, Japan.
  • Muramatsu H; Laboratory of Sequence Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo, 108-8639, Japan.
  • Hara T; Department of Pediatrics, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
  • Kanno H; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
  • Kojima S; Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo, 162-8666, Japan.
  • Miyano S; Department of Pediatrics, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
  • Ito E; Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo, 108-8639, Japan.
  • Ogawa S; Laboratory of Sequence Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo, 108-8639, Japan.
  • Ohga S; Department of Pediatrics, Hirosaki University Graduate School of Medicine, 5 Zaifu-cho, Hirosaki, Aomori, 036-8562, Japan.
Int J Hematol ; 105(4): 515-520, 2017 Apr.
Article em En | MEDLINE | ID: mdl-27882484
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anemia de Diamond-Blackfan / Exoma Tipo de estudo: Diagnostic_studies Limite: Adult / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anemia de Diamond-Blackfan / Exoma Tipo de estudo: Diagnostic_studies Limite: Adult / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article