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A complex phenotype in a child with familial HDL deficiency due to a novel frameshift mutation in APOA1 gene (apoA-IGuastalla).
Pisciotta, Livia; Vitali, Cecilia; Favari, Elda; Fossa, Paola; Adorni, Maria Pia; Leone, Daniela; Artom, Nathan; Fresa, Raffaele; Calabresi, Laura; Calandra, Sebastiano; Bertolini, Stefano.
Affiliation
  • Pisciotta L; Department of Internal Medicine, University of Genoa, Genoa, Italy.
  • Vitali C; Center E. Grossi Paoletti, Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy.
  • Favari E; Department of Pharmacy, University of Parma, Parma, Italy.
  • Fossa P; Department of Pharmacy, University of Genoa, Genoa, Italy.
  • Adorni MP; Department of Pharmacy, University of Parma, Parma, Italy.
  • Leone D; Laboratory of Human Genetics, Galliera Hospital, Genoa, Italy.
  • Artom N; Department of Internal Medicine, University of Genoa, Genoa, Italy.
  • Fresa R; Department of Internal Medicine, University of Genoa, Genoa, Italy.
  • Calabresi L; Center E. Grossi Paoletti, Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy.
  • Calandra S; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy. Electronic address: sebcal@unimore.it.
  • Bertolini S; Department of Internal Medicine, University of Genoa, Genoa, Italy. Electronic address: stefbert@unige.it.
J Clin Lipidol ; 9(6): 837-846, 2015.
Article in En | MEDLINE | ID: mdl-26687706
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Apolipoproteins A / Phenotype / Frameshift Mutation / Hypoalphalipoproteinemias Type of study: Prognostic_studies / Risk_factors_studies Limits: Adolescent / Aged / Aged80 / Female / Humans / Male / Middle aged Language: En Journal: J Clin Lipidol Journal subject: BIOQUIMICA / METABOLISMO Year: 2015 Document type: Article Affiliation country: Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Apolipoproteins A / Phenotype / Frameshift Mutation / Hypoalphalipoproteinemias Type of study: Prognostic_studies / Risk_factors_studies Limits: Adolescent / Aged / Aged80 / Female / Humans / Male / Middle aged Language: En Journal: J Clin Lipidol Journal subject: BIOQUIMICA / METABOLISMO Year: 2015 Document type: Article Affiliation country: Country of publication: