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Academic Journal

LDLR missense variants disturb structural conformation and LDLR activity in T-lymphocytes of Familial hypercholesterolemia patients.

  • Authors : Barbosa TKA; Department of Clinical and Toxicological Analyses, School of Pharmaceutical Sciences, University of Sao Paulo, Sao Paulo 05508-000, Brazil.; Hirata RDC

Subjects: Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/genetics; Humans ; Cholesterol, LDL/Cholesterol, LDL/Cholesterol, LDL/genetics

  • Source: Gene [Gene] 2023 Feb 15; Vol. 853, pp. 147084. Date of Electronic Publication: 2022 Dec 01.Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic

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Academic Journal

Effects of PCSK9 missense variants on molecular conformation and biological activity in transfected HEK293FT cells.

  • Authors : Los B; Department of Clinical and Toxicological Analyses, School of Pharmaceutical Sciences, University of Sao Paulo, Sao Paulo 05508-000, Brazil.; Ferreira GM

Subjects: Proprotein Convertase 9*/Proprotein Convertase 9*/Proprotein Convertase 9*/genetics ; Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/Hyperlipoproteinemia Type II*/genetics; Humans

  • Source: Gene [Gene] 2023 Jan 30; Vol. 851, pp. 146979. Date of Electronic Publication: 2022 Oct 17.Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic

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