GENETIC FEATURES OF CONGENITAL DYSFUNCTION OF THE ADRENAL CORTEX CAUSED BY 21-HYDROXYLASE DEFICIENCY IN PERSONS OF KAZAKH NATIONALITY
10160 10001 9890 10161 10162 10163 1 2024 10.34689/SH.2024.26.1.002 Introduction. 21-hydroxylase (21-OHD) deficiency caused by mutations in the CYP21A2 gene accounts for more than 90-95% of cases of congenital adrenal hyperplasia. Objective: to study the most well-known mutations of the CYP21A2 gene in children of Kazakh nationality with the classical form of 21-OHD. Materials and research methods. A one-stage cohort study was conducted with congenital ...
Изменен: 28.02.2024Путь: Главная / Home / Publications
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