Analysis of CYP21A2 gene mutations in patients from Ukraine with congenital adrenal hyperplasia

• Published in: Cytology and genetics Vol. 50; no. 3; pp. 183 - 186
• Main Authors: Chernushyn, S. Yu, Livshits, L. A.
• Format: Journal Article
• Language: English
• Published: New York Allerton Press 01.05.2016
• Subjects: Biomedical and Life Sciences; Biomedicine; Human Genetics; congenital adrenal hyperplasia; 21-hydroxylase

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, and R356W) among Ukrainian patients with CAH (congenital adrenal hyperplasia) of different clinical phenotypes a...