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- Title
The novel variant p.Ser465Leu in the PCSK9 gene does not account for the decreased LDLR activity in members of a FH family.
- Authors
Ruotolo, Anna; Di Taranto, Maria Donata; D'Agostino, Maria Nicoletta; Marotta, Gennaro; Gentile, Marco; Nunziata, Maria; Sodano, Marta; Di Noto, Rosa; Del Vecchio, Luigi; Rubba, Paolo; Fortunato, Giuliana
- Abstract
The article focuses on a study about the new variant p.Ser465Leu in proprotein convertase subtilisin/kexin type 9 (PCSK9). Topics discussed include the finding that PCSK9 does not account for the decreased low-density lipoprotein receptor genes (LDLR) on the cell membrane and does not explain the reduced LDL activity which is the cause of the familial hypercholesterolemia (FH) phenotype.
- Subjects
PROPROTEIN convertases; LOW density lipoproteins; CELL membranes; GENES; SUBTILISINS
- Publication
Clinical Chemistry & Laboratory Medicine, 2014, Vol 52, Issue 8, pe175
- ISSN
1434-6621
- Publication type
Article
- DOI
10.1515/cclm-2014-0144