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

doi:10.1086/302156

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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, mito...

Topics

25-Hydroxyvitamin D3 1-alpha-Hydroxylase
Adolescent
Adult
Alleles
Amino Acid Sequence
Animals
Child
Child, Preschool
Chromosomes, Human, Pair 12
Ethnicity
Family Health
Female
Genetic Linkage
Haplotypes
Humans
Infant
Leydig Cells
Male

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