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High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect

✍ Scribed by Lourdes Loidi; Celsa Quinteiro; Silvia Parajes; Jesús Barreiro; Domingo G. Lestón; José M. Cabezas-Agrícola; Aurelio M. Sueiro; David Araujo-Vilar; Lidia Catro-Feijóo; Javier Costas; Manuel Pombo; Fernando Domínguez


Book ID
108703364
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
181 KB
Volume
64
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