共 72 条
[1]
Clausmeyer S(2009)Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets Calcif. Tissue Int. 85 211-220
[2]
Hesse V(2010)An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation J. Bone Miner. Metab. 28 111-115
[3]
Clemens PC(1995)Structure and function of cytochromes P450: a comparative analysis of three crystal structures Structure 3 41-62
[4]
Engelbach M(1998)Current understanding of the molecular actions of vitamin D Physiol. Rev. 78 1193-1231
[5]
Kreuzer M(2007)Vitamin D 1alpha-hydroxylase gene mutations in patients with 1alpha-hydroxylase deficiency J. Clin. Endocrinol. Metab. 92 3177-3182
[6]
Becker-Rose P(1998)Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets N. Engl. J. Med. 338 653-661
[7]
Gribaa M(1999)No enzyme activity of 25-hydroxyvitamin D3 1alpha-hydroxylase gene product in pseudovitamin D deficiency rickets, including that with mild clinical manifestation J. Clin. Endocrinol. Metab. 84 4111-4117
[8]
Younes M(2010)Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor Mol. Genet. Metab. 99 72-79
[9]
Bouyacoub Y(2000)Vitamin D 1 alpha-hydroxylase Trends Endocrinol. Metab. 11 315-319
[10]
Korbaa W(2001)Overview of regulatory cytochrome P450 enzymes of the vitamin D pathway Steroids 66 381-389