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.

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

MARINI, MARIA GIUSEPPINA;PORCU, LOREDANA;CABRIOLU, ANNALISA;MOI, PAOLO
2010-01-01

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.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11584/95991
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