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Article

Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.

Human molecular genetics - 1 Feb 1996

Wilson P J, Ramesh V, Kristiansen A, Bove C, Jozwiak S, Kwiatkowski D J, Short M P, Haines J L

Abstract excerpt

Tuberous sclerosis (TSC) is an autosomal dominant disorder characterized by hamartomas in one or more organs, including the brain, skin, heart and kidneys. Linkage studies have shown locus heterogeneity with one TSC gene mapped to chromosome 9q34 and a second to 16p13.3. The gene on 16p13.3, TSC2...

Topics

Base Sequence
DNA Primers
Female
Humans
Male
Molecular Sequence Data
Mutation
Pedigree
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Repressor Proteins
Tuberous Sclerosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Tuberous Sclerosis Complex 2 Protein

Tumor Suppressor Proteins

Source

Identifiers

PMID: 8824881
DOI: 10.1093/hmg/5.2.249

Genes

TSC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8824881-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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