• Exp. Clin. Endocrinol. Diabetes · Mar 2010

    Case Reports

    A novel missense mutation (C84R) in a patient with type II vitamin d-dependent rickets.

    • I Asunis, M G Marini, L Porcu, A Meloni, A L Cabriolu, A Cao, and P Moi.
    • Dipartimento di Scienze Biomediche e Biotecnologie, Università di Cagliari, Italy.
    • Exp. Clin. Endocrinol. Diabetes. 2010 Mar 1; 118 (3): 177-9.

    AbstractA 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.J. A. Barth Verlag in Georg Thieme Verlag KG Stuttgart * New York.

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