GENETIC FEATURES OF CONGENITAL DYSFUNCTION OF THE ADRENAL CORTEX CAUSED BY 21-HYDROXYLASE DEFICIENCY IN PERSONS OF KAZAKH NATIONALITY
... not match the detected genotype. A high phenotype-genotype correlation was found in the zero, A and B groups, in the C group there was a large clinical variability. Conclusions. It was revealed that in children of Kazakh nationality with CAH caused by 21-hydroxylase deficiency, I172N and I2splice mutations are most common. A high correlation was found. Thus, the frequency of CYP21A2 mutations in CAH in our study was somewhat different from those found in other populations. The study will be useful ...
Изменен: 28.02.2024Путь: Главная / Home / Publications
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