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Novel vitamin D 1α-hydroxylase gene mutations in a Chinese vitamin-D-dependent rickets type I patient.

作者信息

Cao Lihua, Liu Fang, Wang Yu, Ma Jian, Wang Shusen, Wang Libo, Zhang Yang, Chen Chen, Luo Yang, Ma Hongwei

机构信息

The Research Center for Medical Genomics, China Medical University, North 2nd Road 92, Heping Ward, Shenyang 110001, People's Republic of China.

出版信息

J Genet. 2011 Aug;90(2):339-42. doi: 10.1007/s12041-011-0070-1.

DOI:10.1007/s12041-011-0070-1
PMID:21869486
Abstract
摘要

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本文引用的文献

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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.遗传性 1,25-二羟维生素 D 抵抗性佝偻病伴脱发，其病因是维生素 D 受体 DNA 结合域的新型错义突变。
Mol Genet Metab. 2010 Jan;99(1):72-9. doi: 10.1016/j.ymgme.2009.09.004.
2
An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation.一个突尼斯家族性常染色体显性低血磷性佝偻病表型，由一个新的 FGF23 错义突变引起。
J Bone Miner Metab. 2010;28(1):111-5. doi: 10.1007/s00774-009-0111-5. Epub 2009 Aug 5.
3
Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets.
乌兹别克族人群中一例1A型维生素D依赖性佝偻病伴新突变病例
J Clin Res Pediatr Endocrinol. 2016 Dec 1;8(4):484-489. doi: 10.4274/jcrpe.3128. Epub 2016 Jun 29.
X连锁低磷性佝偻病患者中PHEX基因的突变分析：新型点突变及多重连接依赖探针扩增法检测大片段缺失
Calcif Tissue Int. 2009 Sep;85(3):211-20. doi: 10.1007/s00223-009-9260-8. Epub 2009 Jun 10.
4
Vitamin D 1alpha-hydroxylase gene mutations in patients with 1alpha-hydroxylase deficiency.1α-羟化酶缺乏症患者的维生素D 1α-羟化酶基因突变
J Clin Endocrinol Metab. 2007 Aug;92(8):3177-82. doi: 10.1210/jc.2006-2664. Epub 2007 May 8.
5
Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro.1α-羟化酶缺乏症患者中具有体外部分酶活性的新型基因突变。
J Clin Endocrinol Metab. 2002 Jun;87(6):2424-30. doi: 10.1210/jcem.87.6.8534.
6
Overview of regulatory cytochrome P450 enzymes of the vitamin D pathway.维生素D途径中调控性细胞色素P450酶概述。
Steroids. 2001 Mar-May;66(3-5):381-9. doi: 10.1016/s0039-128x(00)00157-4.
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Vitamin D 1 alpha-hydroxylase.维生素D 1α-羟化酶
Trends Endocrinol Metab. 2000 Oct;11(8):315-9. doi: 10.1016/s1043-2760(00)00287-3.
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No enzyme activity of 25-hydroxyvitamin D3 1alpha-hydroxylase gene product in pseudovitamin D deficiency rickets, including that with mild clinical manifestation.
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J Bone Miner Res. 1999 May;14(5):730-9. doi: 10.1359/jbmr.1999.14.5.730.
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Two novel 1alpha-hydroxylase mutations in French-Canadians with vitamin D dependency rickets type I1.
Kidney Int. 1998 Nov;54(5):1437-43. doi: 10.1046/j.1523-1755.1998.00133.x.