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A novel heterozygous mutation c.680A>G (p. N227S) in SLC34A1 gene leading to autosomal dominant hypophosphatemia: A case report.
Chen, Xiang; Xie, Ying; Wan, Shan; Xu, Jin; Cai, Bei; Zhang, Yi; Yu, Xijie.
Affiliation
  • Chen X; Laboratory of Endocrinology and Metabolism, Department of Endocrinology and Metabolism, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University.
  • Xie Y; Laboratory of Endocrinology and Metabolism, Department of Endocrinology and Metabolism, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University.
  • Wan S; Laboratory of Endocrinology and Metabolism, Department of Endocrinology and Metabolism, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University.
  • Xu J; Department of Laboratory Medicine, West China Hospital, Sichuan University.
  • Cai B; Department of Laboratory Medicine, West China Hospital, Sichuan University.
  • Zhang Y; Core Facility of West China Hospital, Sichuan University, Chengdu, China.
  • Yu X; Laboratory of Endocrinology and Metabolism, Department of Endocrinology and Metabolism, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University.
Medicine (Baltimore) ; 98(20): e15617, 2019 May.
Article in En | MEDLINE | ID: mdl-31096470
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Full text: 1 Database: MEDLINE Main subject: Phosphorus / Rickets / Sodium-Phosphate Cotransporter Proteins, Type IIa / Familial Hypophosphatemic Rickets Type of study: Diagnostic_studies / Prognostic_studies Language: En Journal: Medicine (Baltimore) Year: 2019 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Phosphorus / Rickets / Sodium-Phosphate Cotransporter Proteins, Type IIa / Familial Hypophosphatemic Rickets Type of study: Diagnostic_studies / Prognostic_studies Language: En Journal: Medicine (Baltimore) Year: 2019 Type: Article