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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, has been cloned and shown to encode a 5.5 kb transcript that is widely expressed. To facilitate the search for...

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Source

Identifiers

PMID: 8824881
DOI: 10.1093/hmg/5.2.249

Genes

TSC2

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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.

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