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A truncating variant altering the extreme C-terminal region of desmoplakin (DSP) suggests the crucial functional role of the region: a case report study.
Pantou, Malena P; Gourzi, Polyxeni; Vlagkouli, Vasiliki; Papatheodorou, Efstathios; Tsoutsinos, Alexandros; Nyktari, Eva; Degiannis, Dimitrios; Anastasakis, Aris.
Afiliación
  • Pantou MP; Molecular Immunopathology, Histocompatibility and Genetics Laboratory, Onassis Cardiac Surgery Center, Kallithea, Greece. pantou@ocsc.gr.
  • Gourzi P; Molecular Immunopathology, Histocompatibility and Genetics Laboratory, Onassis Cardiac Surgery Center, Kallithea, Greece.
  • Vlagkouli V; Unit of Inherited and Rare Cardiovascular Diseases, Onassis Cardiac Surgery Center, Kallithea, Greece.
  • Papatheodorou E; Unit of Inherited and Rare Cardiovascular Diseases, Onassis Cardiac Surgery Center, Kallithea, Greece.
  • Tsoutsinos A; Department of Pediatric Cardiology, Onassis Cardiac Surgery Center, Kallithea, Greece.
  • Nyktari E; CMR Unit, Onassis Cardiac Surgery Center, Kallithea, Greece.
  • Degiannis D; Molecular Immunopathology, Histocompatibility and Genetics Laboratory, Onassis Cardiac Surgery Center, Kallithea, Greece.
  • Anastasakis A; Unit of Inherited and Rare Cardiovascular Diseases, Onassis Cardiac Surgery Center, Kallithea, Greece.
BMC Med Genomics ; 16(1): 95, 2023 05 04.
Article en En | MEDLINE | ID: mdl-37143080
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Cardiomiopatía Dilatada / Queratodermia Palmoplantar / Cardiomiopatías Tipo de estudio: Diagnostic_studies Límite: Female / Humans / Male Idioma: En Revista: BMC Med Genomics Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Grecia
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Cardiomiopatía Dilatada / Queratodermia Palmoplantar / Cardiomiopatías Tipo de estudio: Diagnostic_studies Límite: Female / Humans / Male Idioma: En Revista: BMC Med Genomics Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Grecia