Title : Five novel mutations in CYP11B2 gene detected in patients with aldosterone synthase deficiency type I: Functional characterization and structural analyses.

Pub. Date : 2010 Aug

PMID : 20494601






1 Functional Relationships(s)
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1 The expression studies of the mutant proteins in COS-1 cells showed a complete absence of CYP11B2 activity of p.S315R and p.R374W mutants for the conversion of 11-deoxycorticosterone to aldosterone. Desoxycorticosterone cytochrome P450 family 11 subfamily B member 2 Homo sapiens