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Exp Clin Endocrinol Diabetes 2010; 118(3): 177-179
DOI: 10.1055/s-0028-1103275
DOI: 10.1055/s-0028-1103275
Short Communication
© J. A. Barth Verlag in Georg Thieme Verlag KG Stuttgart · New York
A Novel Missense Mutation (C84R) in a Patient with Type II Vitamin D-dependent Rickets
Weitere Informationen
Publikationsverlauf
received 12.07.2008
first decision 31.10.2008
accepted 31.10.2008
Publikationsdatum:
09. Februar 2010 (online)


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.
Key words
vitamin D dependent rickets type II - vitamin D receptor - missense mutant