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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Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets.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.

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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.

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