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- W2006089885 abstract "A 7-year-old boy with severe rickets that by clinical analysis was diagnosed as affected by type II vitamin D-dependent rickets, was evaluated for mutations in the vitamin D receptor gene (VDR). The molecular analysis showed a homozygous state for a novel missense mutation (C84R) in a highly conserved nucleotide in the second Zn finger of the DNA binding domain." @default.
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- W2006089885 date "2010-02-09" @default.
- W2006089885 modified "2023-09-23" @default.
- W2006089885 title "A Novel Missense Mutation (C84R) in a Patient with Type II Vitamin D-dependent Rickets" @default.
- W2006089885 doi "https://doi.org/10.1055/s-0028-1103275" @default.
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