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

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

doi:10.1371/journal.pgen.1005637

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Open Access

Peer-reviewed

Research Article

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

Magdalena E. Tyburczy,

Affiliation Department of Medicine, Brigham and Women’s Hospital, Boston, Massachusetts, United States of America
⨯
Kira A. Dies,

Affiliation Department of Neurology, Boston Children’s Hospital, Boston, Massachusetts, United States of America
⨯
Jennifer Glass,

Affiliation Department of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, United States of America
⨯
Susana Camposano,

Affiliation Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, United States of America
⨯
Yvonne Chekaluk,

Affiliation Department of Medicine, Brigham and Women’s Hospital, Boston, Massachusetts, United States of America
⨯
Aaron R. Thorner,

Affiliation Center for Cancer Genome Discovery, Dana Farber Cancer Institute, Boston, Massachusetts, United States of America
⨯
Ling Lin,

Affiliation Center for Cancer Genome Discovery, Dana Farber Cancer Institute, Boston, Massachusetts, United States of America
⨯
Darcy Krueger,

Affiliation Department of Pediatrics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, United States of America
⨯
David N. Franz,

Affiliation Department of Pediatrics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, United States of America
⨯
Elizabeth A. Thiele,

Affiliation Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, United States of America
⨯
Mustafa Sahin,

Affiliation Department of Neurology, Boston Children’s Hospital, Boston, Massachusetts, United States of America
⨯
David J. Kwiatkowski

* E-mail: dk@rics.bwh.harvard.edu

Affiliation Department of Medicine, Brigham and Women’s Hospital, Boston, Massachusetts, United States of America
⨯

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

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

Published: November 5, 2015
https://doi.org/10.1371/journal.pgen.1005637

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