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High-throughput sequencing of the entire genomic regions of CCM1/KRIT1, CCM2 and CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformations.
Rath, Matthias; Jenssen, Sönke E; Schwefel, Konrad; Spiegler, Stefanie; Kleimeier, Dana; Sperling, Christian; Kaderali, Lars; Felbor, Ute.
Afiliação
  • Rath M; Department of Human Genetics, University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany.
  • Jenssen SE; Department of Human Genetics, University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany.
  • Schwefel K; Department of Human Genetics, University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany.
  • Spiegler S; Department of Human Genetics, University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany.
  • Kleimeier D; Institute for Bioinformatics, University Medicine Greifswald, Greifswald, Germany.
  • Sperling C; Department of Human Genetics, University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany.
  • Kaderali L; Institute for Bioinformatics, University Medicine Greifswald, Greifswald, Germany.
  • Felbor U; Department of Human Genetics, University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany. Electronic address: felbor@uni-greifswald.de.
Eur J Med Genet ; 60(9): 479-484, 2017 Sep.
Article em En | MEDLINE | ID: mdl-28645800
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Splicing de RNA / Testes Genéticos / Proteínas Proto-Oncogênicas / Hemangioma Cavernoso do Sistema Nervoso Central / Proteínas Reguladoras de Apoptose / Proteína KRIT1 / Proteínas de Membrana / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Holanda
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: Proteínas de Transporte / Splicing de RNA / Testes Genéticos / Proteínas Proto-Oncogênicas / Hemangioma Cavernoso do Sistema Nervoso Central / Proteínas Reguladoras de Apoptose / Proteína KRIT1 / Proteínas de Membrana / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Holanda