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Hungarian Marfan family with large FBN1 deletion calls attention to copy number variation detection in the current NGS era.
Benke, Kálmán; Ágg, Bence; Meienberg, Janine; Kopps, Anna M; Fattorini, Nathalie; Stengl, Roland; Daradics, Noémi; Pólos, Miklós; Bors, András; Radovits, Tamás; Merkely, Béla; De Backer, Julie; Szabolcs, Zoltán; Mátyás, Gábor.
Afiliación
  • Benke K; Heart and Vascular Center, Semmelweis University, Budapest, Hungary.
  • Ágg B; Hungarian Marfan Foundation, Budapest, Hungary.
  • Meienberg J; Heart and Vascular Center, Semmelweis University, Budapest, Hungary.
  • Kopps AM; Hungarian Marfan Foundation, Budapest, Hungary.
  • Fattorini N; Department of Pharmacology and Pharmacotherapy, Semmelweis University, Budapest, Hungary.
  • Stengl R; Center for Cardiovascular Genetics and Gene Diagnostics, Foundation for People with Rare Diseases, Schlieren-Zurich, Switzerland.
  • Daradics N; Center for Cardiovascular Genetics and Gene Diagnostics, Foundation for People with Rare Diseases, Schlieren-Zurich, Switzerland.
  • Pólos M; Center for Cardiovascular Genetics and Gene Diagnostics, Foundation for People with Rare Diseases, Schlieren-Zurich, Switzerland.
  • Bors A; Heart and Vascular Center, Semmelweis University, Budapest, Hungary.
  • Radovits T; Hungarian Marfan Foundation, Budapest, Hungary.
  • Merkely B; Heart and Vascular Center, Semmelweis University, Budapest, Hungary.
  • De Backer J; Hungarian Marfan Foundation, Budapest, Hungary.
  • Szabolcs Z; Heart and Vascular Center, Semmelweis University, Budapest, Hungary.
  • Mátyás G; Hungarian Marfan Foundation, Budapest, Hungary.
J Thorac Dis ; 10(4): 2456-2460, 2018 Apr.
Article en En | MEDLINE | ID: mdl-29850152
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Texto completo: 1 Bases de datos: MEDLINE Tipo de estudio: Diagnostic_studies Idioma: En Revista: J Thorac Dis Año: 2018 Tipo del documento: Article País de afiliación: Hungria
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Tipo de estudio: Diagnostic_studies Idioma: En Revista: J Thorac Dis Año: 2018 Tipo del documento: Article País de afiliación: Hungria