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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.
Afiliação
  • 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 em En | MEDLINE | ID: mdl-37143080
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cardiomiopatia Dilatada / Ceratodermia Palmar e Plantar / Cardiomiopatias Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Male Idioma: En Revista: BMC Med Genomics Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Grécia
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cardiomiopatia Dilatada / Ceratodermia Palmar e Plantar / Cardiomiopatias Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Male Idioma: En Revista: BMC Med Genomics Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Grécia