Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.

Tuberous sclerosis complex (TSC) is an autosomal dominant tumor suppressor gene syndrome due to germline mutations in either TSC1 or TSC2. 10-15% of TSC individuals have no mutation identified (NMI) after thorough conventional molecular diagnostic assessment. 53 TSC subjects who were NMI were studie...

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Bibliografski detalji

Glavni autori:	Magdalena E Tyburczy, Kira A Dies, Jennifer Glass, Susana Camposano, Yvonne Chekaluk, Aaron R Thorner, Ling Lin, Darcy Krueger, David N Franz, Elizabeth A Thiele, Mustafa Sahin, David J Kwiatkowski
Format:	Artigo
Jezik:	Inglês
Izdano:	Public Library of Science (PLoS) 2015-11-01
Serija:	PLoS Genetics
Online pristup:	http://europepmc.org/articles/PMC4634999?pdf=render
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