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A mosaic mutation of phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) in X-linked hypophosphatemic rickets with mild bone phenotypes.
Asano, Shoko; Sako, Saori; Funasaki, Yuka; Takeshita, Yumie; Niida, Yo; Takamura, Toshinari.
Afiliação
  • Asano S; Department of Endocrinology and Metabolism, Kanazawa University Graduate School of Medical Sciences, Ishikawa 920-8640, Japan.
  • Sako S; Department of Endocrinology and Metabolism, Kanazawa University Graduate School of Medical Sciences, Ishikawa 920-8640, Japan.
  • Funasaki Y; Department of Endocrinology and Metabolism, Kanazawa University Graduate School of Medical Sciences, Ishikawa 920-8640, Japan.
  • Takeshita Y; Department of Endocrinology and Metabolism, Kanazawa University Graduate School of Medical Sciences, Ishikawa 920-8640, Japan.
  • Niida Y; Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University, Ishikawa 920-0293, Japan.
  • Takamura T; Department of Endocrinology and Metabolism, Kanazawa University Graduate School of Medical Sciences, Ishikawa 920-8640, Japan.
Endocr J ; 68(9): 1135-1141, 2021 Sep 28.
Article em En | MEDLINE | ID: mdl-33907069
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osso e Ossos / Doenças Genéticas Ligadas ao Cromossomo X / Raquitismo Hipofosfatêmico Familiar / Endopeptidase Neutra Reguladora de Fosfato PHEX País/Região como assunto: Asia Idioma: En Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Japão
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osso e Ossos / Doenças Genéticas Ligadas ao Cromossomo X / Raquitismo Hipofosfatêmico Familiar / Endopeptidase Neutra Reguladora de Fosfato PHEX País/Região como assunto: Asia Idioma: En Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Japão