1.
Bioorg Khim
; 37(6): 815-20, 2011.
Artigo
em Russo
| MEDLINE
| ID: mdl-22497080
RESUMO
Novel mutation in CYP21A2 gene causing the steroid 21-hydroxylase deficiency - C to G substitution in 7-position ofintron 2 acceptor splice site (c.290-7C>G) was identified. The effect of the mutation on splicing was checked in the system of CYP21A minigene expression in the cultured mammalian cells. The mutation impairs the usage of intron 2 acceptor splice site resulting in intron retention.