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Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy.
Lipari, Martina; Wypasek, Ewa; Karpinski, Marek; Tomkiewicz-Pajak, Lidia; Laino, Luigi; Binni, Francesco; Giannarelli, Diana; Rubis, Pawel; Petkow-Dimitrow, Pawel; Undas, Anetta; Grammatico, Paola; Bottillo, Irene.
Afiliación
  • Lipari M; Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy
  • Wypasek E; John Paul II Hospital, Kraków, Poland
  • Karpinski M; Faculty of Medicine and Health Sciences, Andrzej Frycz Modrzewski Krakow University, Kraków, Poland
  • Tomkiewicz-Pajak L; John Paul II Hospital, Kraków, Poland
  • Laino L; John Paul II Hospital, Kraków, Poland
  • Binni F; Department of Cardiac Vascular Diseases, Institute of Cardiology, Jagiellonian University Medical College, Kraków, Poland
  • Giannarelli D; Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy
  • Rubis P; Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy
  • Petkow-Dimitrow P; Biostatistical Unit, Regina Elena National Cancer Institute, Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy
  • Undas A; John Paul II Hospital, Kraków, Poland
  • Grammatico P; Department of Cardiac Vascular Diseases, Institute of Cardiology, Jagiellonian University Medical College, Kraków, Poland
  • Bottillo I; 2nd Department of Cardiology, Institute of Cardiology, Jagiellonian University Medical College, Kraków, Poland
Pol Arch Intern Med ; 130(2): 89-99, 2020 02 27.
Article en En | MEDLINE | ID: mdl-31919335

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Cardiomiopatía Hipertrófica / Proteínas Portadoras / Proteínas con Dominio LIM / Proteínas Musculares / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Pol Arch Intern Med Año: 2020 Tipo del documento: Article País de afiliación: Italia

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Cardiomiopatía Hipertrófica / Proteínas Portadoras / Proteínas con Dominio LIM / Proteínas Musculares / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Pol Arch Intern Med Año: 2020 Tipo del documento: Article País de afiliación: Italia