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Article

Pattern of TSC1 and TSC2 germline mutations in Russian patients with tuberous sclerosis.

Journal of human genetics - 1 May 2018

Suspitsin Evgeny N, Yanus Grigoriy A, Dorofeeva Marina Yu, Ledashcheva Tatiana A, Nikitina Nataliya V, Buyanova Galina V, Saifullina Elena V, Sokolenko Anna P, Imyanitov Evgeny N

Abstract excerpt

Tuberous sclerosis (TS) is a rare autosomal-dominant genetic disease. TS is manifested by the development of multiple hamartomas, which affect brain, kidneys, retina, skin and other organs. This study aimed to reveal specific features of molecular epidemiology of TS in Russia. Blood DNA samples from 61 patients with definite (n = 53) or probable (n = 8) clinical diagnosis of TS were tested for mutations in TSC1...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29476190
DOI: 10.1038/s10038-018-0416-0

Genes

TSC1
TSC2
NMI

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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