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Three novel CYP21A2 mutations and their protein modelling in patients with classical 21-hydroxylase deficiency from northeastern Iran

✍ Scribed by Alireza Baradaran-Heravi; Rahim Vakili; Tiina Robins; Jonas Carlsson; Nosrat Ghaemi; Azadeh A’rabi; Mohammad Reza Abbaszadegan

Book ID
108703774
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
286 KB
Volume
67
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