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Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing.
Cefalù, Angelo B; Spina, Rossella; Noto, Davide; Ingrassia, Valeria; Valenti, Vincenza; Giammanco, Antonina; Fayer, Francesca; Misiano, Gabriella; Cocorullo, Gianfranco; Scrimali, Chiara; Palesano, Ornella; Altieri, Grazia I; Ganci, Antonina; Barbagallo, Carlo M; Averna, Maurizio R.
Afiliação
  • Cefalù AB; Dipartimento Biomedico di Medicina Interna e Specialistica (DIBIMIS), University of Palermo, Palermo, Italy; Molecular Biology Diagnostic Laboratory, Central Laboratory of Advanced Diagnosis and Biomedical Research (CLADIBIOR), AOUP "Paolo Giaccone", Palermo, Italy. Electronic address: abaldassare.c
  • Spina R; Dipartimento Biomedico di Medicina Interna e Specialistica (DIBIMIS), University of Palermo, Palermo, Italy; Molecular Biology Diagnostic Laboratory, Central Laboratory of Advanced Diagnosis and Biomedical Research (CLADIBIOR), AOUP "Paolo Giaccone", Palermo, Italy.
  • Noto D; Dipartimento Biomedico di Medicina Interna e Specialistica (DIBIMIS), University of Palermo, Palermo, Italy.
  • Ingrassia V; Dipartimento Biomedico di Medicina Interna e Specialistica (DIBIMIS), University of Palermo, Palermo, Italy; Molecular Biology Diagnostic Laboratory, Central Laboratory of Advanced Diagnosis and Biomedical Research (CLADIBIOR), AOUP "Paolo Giaccone", Palermo, Italy.
  • Valenti V; Molecular Biology Diagnostic Laboratory, Central Laboratory of Advanced Diagnosis and Biomedical Research (CLADIBIOR), AOUP "Paolo Giaccone", Palermo, Italy.
  • Giammanco A; Dipartimento Biomedico di Medicina Interna e Specialistica (DIBIMIS), University of Palermo, Palermo, Italy.
  • Fayer F; Dipartimento Biomedico di Medicina Interna e Specialistica (DIBIMIS), University of Palermo, Palermo, Italy.
  • Misiano G; Molecular Biology Diagnostic Laboratory, Central Laboratory of Advanced Diagnosis and Biomedical Research (CLADIBIOR), AOUP "Paolo Giaccone", Palermo, Italy.
  • Cocorullo G; Unit of Emergency and General Surgery, Department of Surgical Oncological and Stomatological Sciences, University of Palermo, Palermo, Italy.
  • Scrimali C; Molecular Biology Diagnostic Laboratory, Central Laboratory of Advanced Diagnosis and Biomedical Research (CLADIBIOR), AOUP "Paolo Giaccone", Palermo, Italy.
  • Palesano O; Dipartimento Biomedico di Medicina Interna e Specialistica (DIBIMIS), University of Palermo, Palermo, Italy.
  • Altieri GI; Dipartimento Biomedico di Medicina Interna e Specialistica (DIBIMIS), University of Palermo, Palermo, Italy.
  • Ganci A; Dipartimento Biomedico di Medicina Interna e Specialistica (DIBIMIS), University of Palermo, Palermo, Italy.
  • Barbagallo CM; Dipartimento Biomedico di Medicina Interna e Specialistica (DIBIMIS), University of Palermo, Palermo, Italy.
  • Averna MR; Dipartimento Biomedico di Medicina Interna e Specialistica (DIBIMIS), University of Palermo, Palermo, Italy; Molecular Biology Diagnostic Laboratory, Central Laboratory of Advanced Diagnosis and Biomedical Research (CLADIBIOR), AOUP "Paolo Giaccone", Palermo, Italy. Electronic address: maurizio.aver
J Clin Lipidol ; 11(1): 272-281.e8, 2017.
Article em En | MEDLINE | ID: mdl-28391895
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Análise Mutacional de DNA / Hipertrigliceridemia / Sequenciamento de Nucleotídeos em Larga Escala / Proteínas de Membrana Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Análise Mutacional de DNA / Hipertrigliceridemia / Sequenciamento de Nucleotídeos em Larga Escala / Proteínas de Membrana Idioma: En Ano de publicação: 2017 Tipo de documento: Article