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Refinement of pathogenicity classification of variants associated with familial hypercholesterolemia: Implications for clinical diagnosis.
Di Costanzo, Alessia; Minicocci, Ilenia; D'Erasmo, Laura; Commodari, Daniela; Covino, Stella; Bini, Simone; Ghadiri, Ameneh; Ceci, Fabrizio; Maranghi, Marianna; Catapano, Alberico L; Gazzotti, Marta; Casula, Manuela; Montali, Anna; Arca, Marcello.
Afiliación
  • Di Costanzo A; Department of Translational and Precision Medicine, Sapienza University of Rome, Rome, Italy. Electronic address: alessia.dicostanzo@uniroma1.it.
  • Minicocci I; Department of Translational and Precision Medicine, Sapienza University of Rome, Rome, Italy.
  • D'Erasmo L; Department of Translational and Precision Medicine, Sapienza University of Rome, Rome, Italy.
  • Commodari D; Department of Translational and Precision Medicine, Sapienza University of Rome, Rome, Italy.
  • Covino S; Department of Translational and Precision Medicine, Sapienza University of Rome, Rome, Italy.
  • Bini S; Department of Translational and Precision Medicine, Sapienza University of Rome, Rome, Italy.
  • Ghadiri A; Department of Translational and Precision Medicine, Sapienza University of Rome, Rome, Italy.
  • Ceci F; Department of Experimental Medicine, Sapienza University of Rome, 00161 Rome, Italy.
  • Maranghi M; Department of Translational and Precision Medicine, Sapienza University of Rome, Rome, Italy.
  • Catapano AL; Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy; I.R.C.C.S. Multimedica, Sesto S. Giovanni, Milan, Italy.
  • Gazzotti M; Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy.
  • Casula M; Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy; I.R.C.C.S. Multimedica, Sesto S. Giovanni, Milan, Italy.
  • Montali A; Department of Translational and Precision Medicine, Sapienza University of Rome, Rome, Italy.
  • Arca M; Department of Translational and Precision Medicine, Sapienza University of Rome, Rome, Italy.
J Clin Lipidol ; 15(6): 822-831, 2021.
Article en En | MEDLINE | ID: mdl-34756585
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Apolipoproteínas B / Receptores de LDL / Predisposición Genética a la Enfermedad / Proteínas Adaptadoras Transductoras de Señales / Proproteína Convertasa 9 / Hiperlipoproteinemia Tipo II / Mutación Tipo de estudio: Diagnostic_studies / Etiology_studies / Guideline / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: J Clin Lipidol Asunto de la revista: BIOQUIMICA / METABOLISMO Año: 2021 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Apolipoproteínas B / Receptores de LDL / Predisposición Genética a la Enfermedad / Proteínas Adaptadoras Transductoras de Señales / Proproteína Convertasa 9 / Hiperlipoproteinemia Tipo II / Mutación Tipo de estudio: Diagnostic_studies / Etiology_studies / Guideline / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: J Clin Lipidol Asunto de la revista: BIOQUIMICA / METABOLISMO Año: 2021 Tipo del documento: Article Pais de publicación: Estados Unidos