Identification of a region required for TSC1 stability by functional analysis of TSC1missense mutations found in individuals with tuberous sclerosis complex

The TSC1–TSC2 complex: a molecular switchboard controlling cell growth

(2008) Jingxiang Huang et al.   BIOCHEMICAL JOURNAL

Functional characterisation of the TSC1–TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex

(2008) Mark Nellist et al.   BMC Medical Genetics

A reliable cell-based assay for testing unclassified TSC2 gene variants

(2008) Ricardo Coevoets et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Missense mutations to the TSC1 gene cause tuberous sclerosis complex

(2008) Mark Nellist et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms

(2008) Louis S. Pymar et al.   HUMAN MOLECULAR GENETICS

The tuberous sclerosis gene products hamartin and tuberin are multifunctional proteins with a wide spectrum of interacting partners

(2008) Margit Rosner et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

GENETICS: The Human Variome Project

(2008) R. G. H. Cotton et al.   SCIENCE