Survey of Somatic Mutations in Tuberous Sclerosis Complex (TSC) Hamartomas Suggests Different Genetic Mechanisms for Pathogenesis of TSC Lesions

Author:

Niida Yo,Stemmer-Rachamimov Anat O.,Logrip Marian,Tapon Dagmar,Perez Ronald,Kwiatkowski David J.,Sims Katherine,MacCollin Mia,Louis David N.,Ramesh Vijaya

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference50 articles.

1. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation;Allen;Am J Hum Genet,1992

2. Loss of the TSC2 product tuberin in subependymal giant-cell tumors;Arai;Acta Neuropathol (Berl),1999

3. Complete inactivation of the TSC2 gene leads to formation of hamartomas;Au;Am J Hum Genet,1999

4. Germline mutational analysis of the TSC2 gene in 90 tuberous sclerosis patients;Au;Am J Hum Genet,1998

5. Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis;Beauchamp;Hum Mutat,1998

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