Article
Variations in the promoter of CYP21A2 gene identified in a Chinese patient with simple virilizing form of 21-hydroxylase deficiency.
Clinical endocrinology - 1 Feb 2009
Zhang Hui-Jie, Yang Jun, Zhang Man-Na, Zhang Wei, Liu Jian-Min, Wang Wei-Qing, Ning Guang, Li Xiao-Ying
Abstract excerpt
OBJECTIVE: The variations in the transcriptional regulatory regions of CYP21A2 were rarely investigated in patients with 21-hydroxylase deficiency (21-OHD). The present study aims to verify that the variations in the promoter of CYP21A2 relate to the classical form of 21OHD. PATIENTS AND METHODS: CYP21A2 was screened for mutations in 20 patients with the simple virilizing form of 21OHD, including the promoter...
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