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Article

Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families.

American journal of human genetics - 1 Dec 1998

Wang J T, Lin C J, Burridge S M, Fu G K, Labuda M, Portale A A, Miller W L

Abstract excerpt

Vitamin D-dependent rickets type I (VDDR-I), also known as pseudo-vitamin D-deficiency rickets, appears to result from deficiency of renal vitamin D 1alpha-hydroxylase activity. Prior work has shown that the affected gene lies on 12q13.3. We recently cloned the cDNA and gene for this enzyme, mitochondrial P450c1alpha, and we and others have found mutations in its gene in a few patients. To determine whether all...

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Identifiers

PMID: 9837822
DOI: 10.1086/302156
PMCID: PMC1377641

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