High frequency of splice site mutation in 21-hydroxylase deficiency children

Conclusion The genetic analysis of the splice site mutation c.293-13A>G and c.518T>A variant can be used as good biomarkers for early detection of cases and carriers in 21-OHD CAH Egyptian children, since the methods used have rapid turnaround time.
Source: Journal of Endocrinological Investigation - Category: Endocrinology Source Type: research