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Two novel mutations in CYP11B1 and modeling the consequent alterations of the translated protein in classic congenital adrenal hyperplasia patients

✍ Scribed by Abbaszadegan, Mohammad Reza; Hassani, Soolmaz; Vakili, Rahim; Saberi, Mohammad Reza; Baradaran-Heravi, Alireza; A’rabi, Azadeh; Hashemipour, Mahin; Razzaghi-Azar, Maryam; Moaven, Omeed; Baratian, Ali; Ahadian, Mitra; Keify, Fatemeh; Meurice, Nathalie


Book ID
120825789
Publisher
Springer
Year
2013
Tongue
English
Weight
427 KB
Volume
44
Category
Article
ISSN
0969-711X

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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