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Functional consequences of a novel point mutation in the CYP21A2 gene identified in a Chinese Han patient with nonclassic 21-hydroxylase deficiency

✍ Scribed by Chu, Xiaojing; Ding, Hu; Cui, Guanglin; Xu, Yujun; Wang, Dao Wen; He, Yebing


Book ID
121339255
Publisher
John Wiley and Sons
Year
2013
Tongue
English
Weight
39 KB
Volume
80
Category
Article
ISSN
0300-0664

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## Abstract Steroid 21‐hydroxylase deficiency is present in more than 90% of patients with congenital adrenal hyperplasia (CAH), an inherited metabolic disorder of adrenal steroidogenesis. Impaired enzymatic activity leads to the accumulation of metabolic intermediates (progesterone and 17‐hydroxyp