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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Hlavní autoři: Qin, Wei, Kozlowski, Piotr, Taillon, Bruce E., Bouffard, Pascal, Holmes, Alison J., Janne, Pasi, Camposano, Susana, Thiele, Elizabeth, Franz, David, Kwiatkowski, David J.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2010
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On-line přístup: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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