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Identification and functional characterization of a novel mutation P459H and a rare mutation R483W in theCYP21A2gene in two Chinese patients with simple virilizing form of congenital adrenal hyperplasia

✍ Scribed by L. Jiang,L. L. Song,H. Wang,J. L. Wang…


Book ID
125407994
Publisher
Springer-Verlag
Year
2012
Tongue
English
Weight
406 KB
Volume
35
Category
Article
ISSN
0391-4097

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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