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CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: Identification of two novel mutations and characterization of four different partial gene conversions

✍ Scribed by Ana Friães; Ana Toste Rêgo; José Maria Aragüés; Luís Francisco Moura; Alice Mirante; Mário Rui Mascarenhas; Teresa Taylor Kay; Lurdes Afonso Lopes; José Cidade Rodrigues; Sílvia Guerra; Teresa Dias; Alberto Galvão Teles; João Gonçalves


Book ID
116987796
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
430 KB
Volume
88
Category
Article
ISSN
1096-7192

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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