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 Chinese
| WPRIM
| ID: wpr-395353
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:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Chinese Journal of Endocrinology and Metabolism
Year:
2009
Type:
Article
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