1.
Tsitol Genet
; 50(3): 42-5, 2016.
Artigo
em Inglês, Russo
| MEDLINE
| ID: mdl-30480408
RESUMO
In the article the data on the distribution of CYP21A2 gene mutations (gene deletion/conversion, c.290-13C>A/G, E110Vfs, I172N, cluster of mutations I236N, V237E, M239K, V281L, Q318X, R356W) among Ukrainian patients with congenital adrenal hyperplasia of different clinical phenotypes are presented. The most common mutation in the studied group (n = 27) is the CYP21A2 gene deletion/conversion. Possible patterns of the studied mutations distribution in different populations of the world and the patients' genotype phenotype association are discussed.