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Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of congenital adrenal hyperplasia

✍ Scribed by Paola Concolino; Francesca Vendittelli; Enrica Mello; Angelo Minucci; Cinzia Carrozza; Aurora Rossodivita; Bruno Giardina; Cecilia Zuppi; Ettore Capoluongo


Book ID
108704386
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
248 KB
Volume
71
Category
Article
ISSN
0300-0664

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Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disease with a wide range of clinical manifestation. In 90-95% of the cases it is caused by 21-hydroxylase deficiency (OMIM #201910) due to mutations of the CYP21 gene (GDB Accession #M12792). In most cases the CYP21-inactivating p