Tuberous sclerosis in the Republic of Sakha (Yakutia)

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...

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Bibliographic Details
Main Authors: V. Sofronova M., D. Petukhova A., A. Sukhomyasova L., N. Maksimova R., В. Софронова М., Д. Петухова А., А. Сухомясова Л., Н. Максимова Р.
Format: Article in Journal/Newspaper
Language:Russian
Published: Publishing House «Genius Media» LLC 2020
Subjects:
tuberous sclerosis
TSC1 gene
TSC2 gene
MLPA
туберозный склероз
ген TSC1
ген TSC2
Sakha
Republic of Sakha
Yakutia
Саха
Якути*
Якутия
Online Access:https://www.medgen-journal.ru/jour/article/view/1666
Description
Summary: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. Проведен ретроспективный клинико-генеалогический анализ 20 пациентов с диагнозом туберозный склероз. По результатам молекулярно-генетической диагностики в 3 неродственных якутских и 1 русской семьях выявлены 4 разных патогенных варианта нуклеотидной последовательности в генах TSC1, TSC2.

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