Journal of Genetic Disorders & Genetic ReportsISSN: 2327-5790

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Stefano Bertolini Author

stefbert@unige.it

Subjects of specialization
APOE gene mutation

Affiliation
Department of Internal Medicine, LAB for Molecular-Genetics of Lipoprotein Disorders, University of Genoa, Genoa, Italy

Biography

Stefano Bertolini belongs to Department of Internal Medicine intrested in the field Lipoprotein glomerulopathy (LPG); APOE gene mutation; Dominant inheritance with incomplete penetrance; Glomerular lipoprotein thrombi; Hyperlipidemia from LAB for Molecular-Genetics of Lipoprotein Disorders, University of Genoa, Genoa, Italy

Publications

Research Article Open Access

Lipoprotein Glomerulopathy: Molecular Characterization of Three Italian Patients and Literature Survey

Author(s):

Antonio Pasquariello, Livia Pisciotta, Tiziana Sampietro, Giovanna Pasquariello, Pellegrino Masiello, Matilde Masini, Francesco Sbrana, Mariarita Puntoni, Roberto Miccoli, Sebastiano Calandra and Stefano Bertolini

Lipoprotein Glomerulopathy: Molecular Characterization of Three Italian Patients and Literature Survey

Lipoprotein glomerulopathy (LPG) is a rare kidney disease, mainly reported in Asian subjects, linked with rare APOE gene mutations resulting in a structurally abnormal Apolipoprotein E (ApoE), the plasma accumulation of lipoprotein remnants and the formation of lipid thrombi in glomerular capillaries. This study reports the molecular characterization of three unrelated Italian patients with long standing LPG.

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DOI: 10.4172/2327-5790.1000113

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