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ISSN 0564-3783
Cytology and Genetics
 
 
TSitologiya i Genetika 2016, vol. 50, no. 3, 42-45
Cytology and Genetics 2016, vol. 50, no. 3, 183–186, doi: https://www.doi.org/10.3103/S0095452716030026

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

Chernushyn S.Yu., Livshits L.A.

SUMMARY. 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.

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TSitologiya i Genetika
2016, vol. 50, no. 3, 42-45

Current Issue
Cytology and Genetics
2016, vol. 50, no. 3, 183–186,
doi: 10.3103/S0095452716030026

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