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Potential pathological role of single nucleotide polymorphism (c.787T>C) in alkaline phosphatase (ALPL) for the phenotypes of hypophosphatasia.
Matsuda, Nozomi; Takasawa, Kei; Ohata, Yasuhisa; Takishima, Shigeru; Kubota, Takuo; Ishihara, Yasuki; Fujiwara, Makoto; Ogawa, Erika; Morio, Tomohiro; Kashimada, Kenichi; Ozono, Keiichi.
Afiliação
  • Matsuda N; Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo 113-8510, Japan.
  • Takasawa K; Department of Pediatrics, Soka Municipal Hospital, Saitama 340-8560, Japan.
  • Ohata Y; Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo 113-8510, Japan.
  • Takishima S; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka 565-0871, Japan.
  • Kubota T; Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo 113-8510, Japan.
  • Ishihara Y; Department of Pediatrics, Soka Municipal Hospital, Saitama 340-8560, Japan.
  • Fujiwara M; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka 565-0871, Japan.
  • Ogawa E; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka 565-0871, Japan.
  • Morio T; The first Department of Oral and Maxillofacial Surgery, Osaka University Graduate School of Dentistry, Osaka 565-0871, Japan.
  • Kashimada K; Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Osaka 565-0871, Japan.
  • Ozono K; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka 565-0871, Japan.
Endocr J ; 67(12): 1227-1232, 2020 Dec 28.
Article em En | MEDLINE | ID: mdl-32779619
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Polimorfismo de Nucleotídeo Único / Fosfatase Alcalina / Hipofosfatasia / Mutação Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Polimorfismo de Nucleotídeo Único / Fosfatase Alcalina / Hipofosfatasia / Mutação Idioma: En Ano de publicação: 2020 Tipo de documento: Article