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Novel intronic CYP21A2 mutation in a Japanese patient with classic salt-wasting steroid 21-hydroxylase deficiency

โœ Scribed by Noriyuki Katsumata; Takashi Shinagawa; Reiko Horikawa; Kaori Fujikura


Book ID
113799103
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
337 KB
Volume
59
Category
Article
ISSN
1532-8600

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Two novel CYP21A2 missense mutations in
โœ Paola Concolino; Francesca Vendittelli; Enrica Mello; Cristiana Carelli Alinovi; ๐Ÿ“‚ Article ๐Ÿ“… 2009 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 225 KB

## Abstract Steroid 21โ€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 17โ€hydroxyp