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家族性低磷抗D佝偻病六例误诊分析 被引量:1

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机构地区 河北省儿童医院
出处 《中国全科医学》 CAS CSCD 2004年第19期1434-1435,共2页 Chinese General Practice
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  • 1夏维波,孟迅吾,周学瀛.调磷因子:成纤维细胞生长因子23[J].国外医学(内分泌学分册),2004,24(4):241-243. 被引量:11
  • 2Hanna JD, Niimi K, Chan JM. X-linked hypophosphatemia. Genetic and clinical correlates[J]. Am J Dis Child, 1991, 145(8): 865-870.
  • 3Holm IA, Nelson AE, Robinson BG, et al. Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets[J]. J Clin Endocrinol Metab, 2001, 86(8): 3889-3899.
  • 4Kang Q, Xu J, Zhang Z, et al. Three novel< i> PHEX</i> gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets[J]. Biochem Biophy Res Commun, 2012, 423(4): 793-798.
  • 5Francis F, Strom TM, Hennig S, et al. Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets[J]. Genome Res, 1997, 7(6): 573-585.
  • 6Shows TB, McAlpine PJ. The catalog of human genes and chromosome assignments. A report on human genetic nomenclature and genes that have been mapped in man[J]. Cytogenet Cell Genet, 1978, 22(1-6): 132-145.
  • 7Drezner MK. PHEX gene and hypophosphatemia[J]. Kidney Int, 2000, 57(1): 9-18.
  • 8Brame LA, White KE, Econs MJ. Renal phosphate wasting disorders: clinical features and pathogenesis[J]. Semin Nephrol, 2004, 24(1): 39-47.
  • 9Francis F, Hennig S, Korn B, et al. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium[J]. Nat Genet, 1995, 11(2): 130-136.
  • 10Guo R, Quarles LD. Cloning and sequencing of human PEX from a bone eDNA library: evidence for its developmental stage-specific regulation in osteoblasts[J]. J Bone Miner Res, 1997. 12(7): 1009- 1017.

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