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A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient.
Chi, Yue; Zhao, Zhen; He, Xiaodong; Sun, Yue; Jiang, Yan; Li, Mei; Wang, Ou; Xing, Xiaoping; Sun, Andrew Y; Zhou, Xueying; Meng, Xunwu; Xia, Weibo.
Afiliação
  • Chi Y; Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan No. 1, Wangfujing, Dongcheng District, Beijing 100730, China.
  • Zhao Z; Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan No. 1, Wangfujing, Dongcheng District, Beijing 100730, China.
  • He X; Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan No. 1, Wangfujing, Dongcheng District, Beijing 100730, China.
  • Sun Y; Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan No. 1, Wangfujing, Dongcheng District, Beijing 100730, China.
  • Jiang Y; Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan No. 1, Wangfujing, Dongcheng District, Beijing 100730, China.
  • Li M; Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan No. 1, Wangfujing, Dongcheng District, Beijing 100730, China.
  • Wang O; Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan No. 1, Wangfujing, Dongcheng District, Beijing 100730, China.
  • Xing X; Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan No. 1, Wangfujing, Dongcheng District, Beijing 100730, China.
  • Sun AY; Harvard Medical School, Boston, MA 02115, USA.
  • Zhou X; Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan No. 1, Wangfujing, Dongcheng District, Beijing 100730, China.
  • Meng X; Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan No. 1, Wangfujing, Dongcheng District, Beijing 100730, China.
  • Xia W; Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan No. 1, Wangfujing, Dongcheng District, Beijing 100730, China. Electronic address: xiaweibo@medmail.com.cn.
Bone ; 59: 114-21, 2014 Feb.
Article em En | MEDLINE | ID: mdl-24246249
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Povo Asiático / Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIc / Raquitismo Hipofosfatêmico Familiar / Hipercalciúria / Mutação Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Adult / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Bone Assunto da revista: METABOLISMO / ORTOPEDIA Ano de publicação: 2014 Tipo de documento: Article País de afiliação: China País de publicação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Povo Asiático / Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIc / Raquitismo Hipofosfatêmico Familiar / Hipercalciúria / Mutação Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Adult / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Bone Assunto da revista: METABOLISMO / ORTOPEDIA Ano de publicação: 2014 Tipo de documento: Article País de afiliação: China País de publicação: Estados Unidos