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Article

TSC1 R509X Mutation in a Chinese Family with Tuberous Sclerosis Complex.

Neuromolecular medicine - 1 Jun 2015

Zhang Yu, Gan Jing, Pu Zheng, Xu Ming ming, Wang Li feng, Li Yu hua, Liu Zhen guo

Abstract excerpt

Tuberous sclerosis complex is a rare autosomal dominant disorder caused by mutations in either of TSC1 and TSC2 genes. Tuberous sclerosis complex presents diverse clinical characteristics, and either of TSC1 and TSC2 genes shows a wide range of mutations in their coding regions. However, the correlation between genotype and phenotype is yet unknown. We describe the clinical characteristics of a Chinese family...

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Identifiers

PMID: 25900779
DOI: 10.1007/s12017-015-8354-x

Genes

TSC1
TSC2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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