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A compound heterozygous mutation of the alkaline phosphatase ALPL gene causes hypophosphatasia in a Han Chinese family.
Huang, Huajie; Wang, Jian; Liang, Yingyin; Wei, Xiaofeng; Guo, Dan; Sun, Hengbiao; Zhang, Xuelian; Xu, Xiangmin; Xiong, Fu.
Afiliação
  • Huang H; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong 510515, P.R. China.
  • Wang J; Medical Genetic Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong 511400, P.R. China.
  • Liang Y; Department of Orthopedic Surgery, Southern Medical University, Nanfang Hospital, Guangzhou, Guangdong 510515, P.R. China.
  • Wei X; Department of Neurology, First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong 510080, P.R. China.
  • Guo D; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong 510515, P.R. China.
  • Sun H; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong 510515, P.R. China.
  • Zhang X; Department of Clinical Laboratory, The Third Affiliated Hospital of Southern Medical University, Guangzhou, Guangdong 510630, P.R. China.
  • Xu X; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong 510515, P.R. China.
  • Xiong F; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong 510515, P.R. China.
Exp Ther Med ; 20(6): 152, 2020 Dec.
Article em En | MEDLINE | ID: mdl-33093890
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Etiology_studies / Prognostic_studies Idioma: En Revista: Exp Ther Med Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Etiology_studies / Prognostic_studies Idioma: En Revista: Exp Ther Med Ano de publicação: 2020 Tipo de documento: Article