Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutation landscape of TSC1/TSC2 in Chinese patients with tuberous sclerosis complex.

Journal of human genetics - 1 Mar 2021

Meng Yuhuan, Yu Changshun, Chen Meijun, Yu Xiaokang, Sun Mingming, Yan Hui, Zhao Weiwei, Yu Shihui

Abstract excerpt

Genetic testing of TSC1 and TSC2 is important for the diagnosis of tuberous sclerosis complex (TSC), an autosomal dominant neurocutaneous disease. This study retrospectively reviewed 347 samples from patients with clinically suspected TSC being tested for mutations in TSC1 and TSC2 genes using next-generation sequencing and multiplex ligation-dependent probe amplification. Two hundred eighty-one patients (80.98%)...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Asian People
Share to Child, Preschool
Share to DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to INDEL Mutation

Share to Infant

Share to Tuberous Sclerosis

Share to Tuberous Sclerosis Complex 1 Protein

Share to Tuberous Sclerosis Complex 2 Protein

Source

Identifiers

PMID: 32917966
DOI: 10.1038/s10038-020-00839-0

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation landscape of TSC1/TSC2 in Chinese patients with tuberous sclerosis complex.PMID 32917966Read ↗

TSC1 and TSC2 Gene Mutations in Chinese Tuberous Sclerosis Complex Patients Clinically Characterized by Epilepsy.Semantic proximity Read ↗

A novel de novo TSC2 nonsense mutation detected in a pediatric patient with tuberous sclerosis complex.Semantic proximity Read ↗

Mutational analyses of the TSC1 and TSC2 genes in cases of tuberous sclerosis complex in Chinese Han children.Semantic proximity Read ↗

Molecular Characterization of TSC1 and TSC2 Variants in a Greek Cohort of Tuberous Sclerosis Complex Patients.Semantic proximity Read ↗

Genotype and Phenotype Analysis of Chinese Children With Tuberous Sclerosis Complex: A Pediatric Cohort StudySemantic proximity Read ↗

Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex.Semantic proximity Read ↗

Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM).Semantic proximity Read ↗

A novel de novo mutation in the TSC2 gene in a Chinese patient with tuberous sclerosis complex.Semantic proximity Read ↗

Novel TSC1 and TSC2 gene mutations in Chinese patients with tuberous sclerosis complex.Semantic proximity Read ↗

Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations.Semantic proximity Read ↗

Analysis of TSC1 and TSC2 genes and evaluation of phenotypic correlations with tuberous sclerosis.Semantic proximity Read ↗

Two novel TSC2 mutations in Chinese patients with tuberous sclerosis complex and a literature review of 20 patients reported in China.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.