1.
Chinese Journal of Endocrinology and Metabolism
; (12): 150-151, 2009.
Artigo
em Chinês
| WPRIM
| ID: wpr-395353
RESUMO
Mutations P459H and R483W detected in CYP21A2 gene in two Chinese patients with simple virilizing 21-hydroxylase deficiency were studied.Plasmid vectors containing P459H and R483W were constructed and transfected into COS-7 cells.The converting rate of progesterone to 11-desoxycortisone was calculated.P459H reduce 21-hydroxylase activity to 6.8%,while the residual enzyme activity of R483W was only 2.9%.