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Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.
Tyburczy, Magdalena E; Dies, Kira A; Glass, Jennifer; Camposano, Susana; Chekaluk, Yvonne; Thorner, Aaron R; Lin, Ling; Krueger, Darcy; Franz, David N; Thiele, Elizabeth A; Sahin, Mustafa; Kwiatkowski, David J.
Afiliação
  • Tyburczy ME; Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, United States of America.
  • Dies KA; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, United States of America.
  • Glass J; Department of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States of America.
  • Camposano S; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, United States of America.
  • Chekaluk Y; Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, United States of America.
  • Thorner AR; Center for Cancer Genome Discovery, Dana Farber Cancer Institute, Boston, Massachusetts, United States of America.
  • Lin L; Center for Cancer Genome Discovery, Dana Farber Cancer Institute, Boston, Massachusetts, United States of America.
  • Krueger D; Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States of America.
  • Franz DN; Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States of America.
  • Thiele EA; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, United States of America.
  • Sahin M; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, United States of America.
  • Kwiatkowski DJ; Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, United States of America.
PLoS Genet ; 11(11): e1005637, 2015 Nov.
Article em En | MEDLINE | ID: mdl-26540169
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Íntrons / Proteínas Supressoras de Tumor / Mosaicismo / Mutação Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: PLoS Genet Assunto da revista: GENETICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Íntrons / Proteínas Supressoras de Tumor / Mosaicismo / Mutação Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: PLoS Genet Assunto da revista: GENETICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Estados Unidos