Funcriohal analysis of novel mutations P459H and R483W in 21-hydroxylase gene / 中华内分泌代谢杂志
Chinese Journal of Endocrinology and Metabolism
; (12): 150-151, 2009.
Article
in Zh
| WPRIM
| ID: wpr-395353
Responsible library:
WPRO
ABSTRACT
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%.
Full text:
1
Index:
WPRIM
Language:
Zh
Journal:
Chinese Journal of Endocrinology and Metabolism
Year:
2009
Type:
Article