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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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Detalhes bibliográficos
Main Authors: Niida, Yo, Stemmer-Rachamimov, Anat O., Logrip, Marian, Tapon, Dagmar, Perez, Ronald, Kwiatkowski, David J., Sims, Katherine, MacCollin, Mia, Louis, David N., Ramesh, Vijaya
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2001
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1235480/
https://ncbi.nlm.nih.gov/pubmed/11468687
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