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

Tuberous sclerosis complex (TSC), an autosomal dominant disease caused by mutations in either TSC1 or TSC2, is characterized by the development of hamartomas in a variety of organs. Concordant with the tumor-suppressor model, loss of heterozygosity (LOH) is known to occur in these hamartomas at loci...

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Autori principali: Niida, Yo, Stemmer-Rachamimov, Anat O., Logrip, Marian, Tapon, Dagmar, Perez, Ronald, Kwiatkowski, David J., Sims, Katherine, MacCollin, Mia, Louis, David N., Ramesh, Vijaya
Natura: Artigo
Lingua:Inglês
Pubblicazione: The American Society of Human Genetics 2001
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1235480/
https://ncbi.nlm.nih.gov/pubmed/11468687
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