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Duplication of 111 bases in exon 1 of the CYP21 gene is combined with deletion of CYP21P-C4B genes in steroid 21-hydroxylase deficiency

โœ Scribed by Hsien-Hsiung Lee; Shwu-Fen Chang; Fu-Sung Lo; Hsiang-Tai Chao; Ching-Yu Lin


Book ID
117735530
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
211 KB
Volume
79
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