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A novel splicing mutation in the ABCA1 gene, causing Tangier disease and familial HDL deficiency in a large family.
Maranghi, Marianna; Truglio, Gessica; Gallo, Antonio; Grieco, Elvira; Verrienti, Antonella; Montali, Anna; Gallo, Pietro; Alesini, Francesco; Arca, Marcello; Lucarelli, Marco.
Afiliação
  • Maranghi M; Department of Internal Medicine and Medical Specialties, Atherosclerosis Unit, Sapienza University of Rome, Italy.
  • Truglio G; Department of Internal Medicine and Medical Specialties, Atherosclerosis Unit, Sapienza University of Rome, Italy; Department of Cellular Biotechnologies and Hematology, Sapienza University of Rome, Italy.
  • Gallo A; Department of Internal Medicine and Medical Specialties, Atherosclerosis Unit, Sapienza University of Rome, Italy.
  • Grieco E; Department of Internal Medicine and Medical Specialties, Atherosclerosis Unit, Sapienza University of Rome, Italy.
  • Verrienti A; Department of Internal Medicine and Medical Specialties, Atherosclerosis Unit, Sapienza University of Rome, Italy.
  • Montali A; Department of Internal Medicine and Medical Specialties, Atherosclerosis Unit, Sapienza University of Rome, Italy.
  • Gallo P; Department of Experimental Medicine, Sapienza University of Rome, Italy.
  • Alesini F; Department of Experimental Medicine, Sapienza University of Rome, Italy.
  • Arca M; Department of Internal Medicine and Medical Specialties, Atherosclerosis Unit, Sapienza University of Rome, Italy.
  • Lucarelli M; Department of Cellular Biotechnologies and Hematology, Sapienza University of Rome, Italy; Pasteur Institute Cenci Bolognetti Foundation, Sapienza University of Rome, Italy. Electronic address: marco.lucarelli@uniroma1.it.
Biochem Biophys Res Commun ; 508(2): 487-493, 2019 01 08.
Article em En | MEDLINE | ID: mdl-30503498
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Tangier / Splicing de RNA / Hipoalfalipoproteinemias / Transportador 1 de Cassete de Ligação de ATP / Mutação Limite: Female / Humans / Male Idioma: En Revista: Biochem Biophys Res Commun Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Tangier / Splicing de RNA / Hipoalfalipoproteinemias / Transportador 1 de Cassete de Ligação de ATP / Mutação Limite: Female / Humans / Male Idioma: En Revista: Biochem Biophys Res Commun Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Itália