Preview

Medical Genetics

Advanced search

Tuberous sclerosis in the Republic of Sakha (Yakutia)

Abstract

A retrospective clinical and genealogical analysis of 20 patients with a diagnosis of tuberous sclerosis was performed. According to the results of molecular genetics diagnostics, 4 different pathogenic variants of the nucleotide sequence in the TSC1, TSC2 genes were identified in 3 unrelated Yakut and 1 Russian family.

About the Authors

V. M. Sofronova
Ammosov North-Eastern Federal University
Russian Federation


D. A. Petukhova
Ammosov North-Eastern Federal University
Russian Federation


A. L. Sukhomyasova
Ammosov North-Eastern Federal University
Russian Federation


N. R. Maksimova
Ammosov North-Eastern Federal University
Russian Federation


Review

For citations:


Sofronova V.M., Petukhova D.A., Sukhomyasova A.L., Maksimova N.R. Tuberous sclerosis in the Republic of Sakha (Yakutia). Medical Genetics. 2020;19(8):24-26. (In Russ.)

Views: 355


Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.


ISSN 2073-7998 (Print)