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Novel mutation in the ALPL gene with a dominant negative effect in a Japanese family.
Kato, Masaru; Michigami, Toshimi; Tachikawa, Kanako; Kato, Momoko; Yabe, Ichiro; Shimizu, Tomohiro; Asaka, Takuya; Kitagawa, Yoshimasa; Atsumi, Tatsuya.
Afiliación
  • Kato M; Department of Rheumatology, Endocrinology and Nephrology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, N15W7, Kita-Ku, Sapporo, 060-8638, Japan. ktmasaru@med.hokudai.ac.jp.
  • Michigami T; Department of Bone and Mineral Research, Research Institute, Osaka Women's and Children's Hospital, Osaka Prefectural Hospital Organization, Osaka, Japan.
  • Tachikawa K; Department of Bone and Mineral Research, Research Institute, Osaka Women's and Children's Hospital, Osaka Prefectural Hospital Organization, Osaka, Japan.
  • Kato M; The Division of Clinical Genetics, Hokkaido University Hospital, Sapporo, Japan.
  • Yabe I; The Division of Clinical Genetics, Hokkaido University Hospital, Sapporo, Japan.
  • Shimizu T; Department of Orthopedic Surgery, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
  • Asaka T; Oral Diagnosis and Medicine, Hokkaido University, Sapporo, Japan.
  • Kitagawa Y; Oral Diagnosis and Medicine, Hokkaido University, Sapporo, Japan.
  • Atsumi T; Department of Rheumatology, Endocrinology and Nephrology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, N15W7, Kita-Ku, Sapporo, 060-8638, Japan.
J Bone Miner Metab ; 39(5): 804-809, 2021 Sep.
Article en En | MEDLINE | ID: mdl-33821301
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Hipofosfatasia Límite: Humans País/Región como asunto: Asia Idioma: En Revista: J Bone Miner Metab Asunto de la revista: METABOLISMO Año: 2021 Tipo del documento: Article País de afiliación: Japón
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Hipofosfatasia Límite: Humans País/Región como asunto: Asia Idioma: En Revista: J Bone Miner Metab Asunto de la revista: METABOLISMO Año: 2021 Tipo del documento: Article País de afiliación: Japón