A novel nonsense mutation in the first zinc finger of the vitamin D receptor causing hereditary 1,25-dihydroxyvitamin D3-resistant rickets.

Mechica, J B; Leite, M O; Mendonca, B B; Frazzatto, E S; Borelli, A; Latronico, A C

Mechica, J B; Leite, M O; Mendonca, B B; Frazzatto, E S; Borelli, A; Latronico, A C.

Affiliation

Mechica JB; Division of Endocrinology, Hospital das Clínicas, University of Sao Paulo, Brazil.

J Clin Endocrinol Metab ; 82(11): 3892-4, 1997 Nov.

Article in En | MEDLINE | ID: mdl-9360557

Subject(s)

Hypophosphatemia, Familial/genetics; Point Mutation; Receptors, Calcitriol/genetics; Zinc Fingers; Arginine/genetics; Base Sequence; Calcitriol/blood; Child; Codon; DNA, Complementary/chemistry; Humans; Hypophosphatemia, Familial/diagnosis; Male; Pedigree; Polymerase Chain Reaction

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Database: MEDLINE Main subject: Zinc Fingers / Point Mutation / Receptors, Calcitriol / Hypophosphatemia, Familial Type of study: Diagnostic_studies Language: En Journal: J Clin Endocrinol Metab Year: 1997 Type: Article Affiliation country: Brazil

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