- PHEX Gene Mutations and Genotype-Phenotype Analysis of Korean Patients with Hypophosphatemic Rickets
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Song HR, Park JW, Cho DY, Yang JH, Yoon HR, Jung SC
- KMID: 1785757
- J Korean Med Sci.
- 2007 Dec;22(6):981-986.
- doi: 10.3346/jkms.2007.22.6.981
X-linked hypophosphatemic rickets (XLH) results from mutations in the PHEX gene. Mutational analysis of the PHEX gene in 15 unrelated Korean patients with hypophosphatemic rickets revealed eight mutations, including five... -
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- Novel Compound Heterozygous Mutations in the Vitamin D Receptor Gene in a Korean Girl with Hereditary Vitamin D Resistant Rickets
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Song JK, Yoon KS, Shim KS, Bae CW
- KMID: 1777854
- J Korean Med Sci.
- 2011 Aug;26(8):1111-1114.
- doi: 10.3346/jkms.2011.26.8.1111
Hereditary vitamin D resistant rickets (HVDRR) is a rare genetic disorder caused by a mutation of vitamin D receptor (VDR) gene. A number of cases had been reported in many... -
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