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Ultra deep sequencing detects a low rate of mosaic mutations in Tuberous Sclerosis Complex
Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome caused by mutations in TSC1 and TSC2. However, 10 to 15% TSC patients have no mutation identified with conventional molecular diagnostic studies. We used the ultra-deep pyrosequencing technique of 454 Sequencing to sea...
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| Main Authors: | , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2010
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2854849/ https://ncbi.nlm.nih.gov/pubmed/20165957 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-010-0801-z |
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