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Steroid 21-hydroxylase (P450c21): a new allele and spread of mutations through the pseudogene

✍ Scribed by Anna Wedell; Holger Luthman


Book ID
104669050
Publisher
Springer
Year
1993
Tongue
English
Weight
740 KB
Volume
91
Category
Article
ISSN
0340-6717

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The steroid 21-hydroxylase enzyme (P450c21) is a member of the cytochrome P450 gene superfamily and is essential in the synthesis of cortisol and aldosterone. Defects in the P450c21B gene cause congenital adrenal hyperplasia (CAH), a common genetic disorder leading to virilization of newborn females