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E380D: A novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency

โœ Scribed by Linda Kirby-Keyser; Craig C. Porter; Patricia A. Donohoue


Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
96 KB
Volume
9
Category
Article
ISSN
1059-7794

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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