(Q46127879)

19 December 2017

title

Lack of mutations in CYP2D6 and CYP27 in patients with apparent deficiency of vitamin D 25-hydroxylase (English)

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19 December 2017

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Chin Jia Lin

1

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19 December 2017

Andrea Dardis

2

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19 December 2017

Sujeewa D Wijesuriya

3

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19 December 2017

Mohamed A Abdullah

4

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19 December 2017

Samuel J Casella

5

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19 December 2017

Walter L Miller

6

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19 December 2017

publication date

1 December 2003

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19 December 2017

Molecular Genetics and Metabolism

published in

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19 December 2017

volume

80

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19 December 2017

issue

4

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19 December 2017

page(s)

469-472

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19 December 2017

The role of the vitamin D endocrine system in health and disease

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The 25-hydroxyvitamin D 1-alpha-hydroxylase gene maps to the pseudovitamin D-deficiency rickets (PDDR) disease locus

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Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets.

7 January 2021

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Two novel 1alpha-hydroxylase mutations in French-Canadians with vitamin D dependency rickets type I1

7 January 2021

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Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages.

7 January 2021

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Isolation and expression of human 1,25-dihydroxyvitamin D3 24-hydroxylase cDNA

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Cloning of the human 1α,25-dihydroxyvitamin D-3 24-hydroxylase gene promoter and identification of two vitamin D-responsive elements

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The mechanism of 1,25-dihydroxyvitamin D(3) autoregulation in keratinocytes

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A cDNA encoding a rat mitochondrial cytochrome P450 catalyzing both the 26-hydroxylation of cholesterol and 25-hydroxylation of vitamin D3: gonadotropic regulation of the cognate mRNA in ovaries

7 January 2021

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Molecular cloning of cDNA for vitamin D3 25-hydroxylase from rat liver mitochondria

7 January 2021

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Markedly reduced bile acid synthesis but maintained levels of cholesterol and vitamin D metabolites in mice with disrupted sterol 27-hydroxylase gene

7 January 2021

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7 January 2021

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Adolescent rickets in Saudi Arabia: a rich and sunny country

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Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin

7 January 2021

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Genetic mechanisms for duplication and multiduplication of the human CYP2D6 gene and methods for detection of duplicated CYP2D6 genes

7 January 2021

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7 January 2021

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10.1016/J.YMGME.2003.10.004

7 January 2021

Identifiers

DOI

1 reference

19 December 2017

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19 December 2017