The frequency of 12 different mutations of the steroid 21-hydroxylase gene (CYP21) was investigated in 129 French patients affected by congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency. Eighty-nine percent of the CAH chromosomes were characterized. The most frequent mutat
โฆ LIBER โฆ
Clinical Phenotype and Mutation Spectrum of the CYP21A2 Gene in Patients with Steroid 21-Hydroxylase Deficiency
โ Scribed by Choi, J.-H.; Jin, H.-Y.; Lee, B.; Ko, J.; Lee, J.-J.; Kim, G.-H.; Jung, C.-W.; Lee, J.; Yoo, H.-W.
- Book ID
- 121647091
- Publisher
- Thieme Medical Publishers
- Year
- 2011
- Tongue
- English
- Weight
- 223 KB
- Volume
- 120
- Category
- Article
- ISSN
- 0947-7349
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## Abstract Steroid 21โhydroxylase 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 17โhydroxyp