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Hindi Journal of Genetic Disorders & Genetic ReportsISSN: 2327-5790
Matilde Masini Author
Subjects of specialization
Affiliation
APOE gene mutation
Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Pisa
Biography
Matilde Masini belongs to Department of Translational Research and New Technologies in Medicine and Surgery intrested in the field Lipoprotein glomerulopathy (LPG); APOE gene mutation; Dominant inheritance with incomplete penetrance; Glomerular lipoprotein thrombi; Hyperlipidemia from University of Pisa, Pisa
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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