Abstract | BACKGROUND: METHODS: We used a candidate-gene approach in a cohort of familial cases of typical idiopathic infantile hypercalcemia with suspected autosomal recessive inheritance. Identified mutations in the vitamin D-metabolizing enzyme CYP24A1 were evaluated with the use of a mammalian expression system. RESULTS: CONCLUSIONS:
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Authors | Karl P Schlingmann, Martin Kaufmann, Stefanie Weber, Andrew Irwin, Caroline Goos, Ulrike John, Joachim Misselwitz, Günter Klaus, Eberhard Kuwertz-Bröking, Henry Fehrenbach, Anne M Wingen, Tülay Güran, Joost G Hoenderop, René J Bindels, David E Prosser, Glenville Jones, Martin Konrad |
Journal | The New England journal of medicine
(N Engl J Med)
Vol. 365
Issue 5
Pg. 410-21
(Aug 04 2011)
ISSN: 1533-4406 [Electronic] United States |
PMID | 21675912
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Vitamin D
- Steroid Hydroxylases
- CYP24A1 protein, human
- Vitamin D3 24-Hydroxylase
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Topics |
- Animals
- Cells, Cultured
- Cricetinae
- Cricetulus
- DNA Mutational Analysis
- Female
- Genes, Recessive
- Genetic Association Studies
- Genetic Predisposition to Disease
- Humans
- Hypercalcemia
(chemically induced, genetics)
- Infant
- Male
- Mutation
- Pedigree
- Risk Factors
- Steroid Hydroxylases
(genetics, metabolism)
- Vitamin D
(adverse effects, metabolism, therapeutic use)
- Vitamin D3 24-Hydroxylase
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