Article
Two novel 1alpha-hydroxylase mutations in French-Canadians with vitamin D dependency rickets type I1.
Kidney international - 1 Nov 1998
Yoshida T, Monkawa T, Tenenhouse H S, Goodyer P, Shinki T, Suda T, Wakino S, Hayashi M, Saruta T
Abstract excerpt
BACKGROUND: Vitamin D dependency rickets type I (VDDR-I) is an autosomal recessive disorder in which 25-hydroxyvitamin D 1alpha-hydroxylase (1alpha-hydroxylase) activity in renal proximal tubules is deficient. VDDR-I is recognized throughout the world, but occurs more frequently in a subset of the French-Canadian population. We and others have recently cloned the human 1alpha-hydroxylase cDNA and gene, making it...
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