The novel variant p.Ser465Leu in the PCSK9 gene does not account for the decreased LDLR activity in members of a FH family

Anna Ruotolo, Maria Donata Di Taranto, Maria Nicoletta D'Agostino, Gennaro Marotta, Marco Gentile, Maria Nunziata, Marta Sodano, Rosa Di Noto, Luigi Del Vecchio, Paolo Rubba, Giuliana Fortunato

Research output: Contribution to journalArticle

Original languageEnglish
JournalClinical Chemistry and Laboratory Medicine
Volume52
Issue number8
DOIs
Publication statusPublished - Aug 1 2014

Keywords

  • apolipoprotein B (APOB)
  • familial hypercholesterolemia
  • low-density lipoprotein receptor (LDLR) activity
  • proprotein convertase subtilisin/kexin type 9 (PCSK9)

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Biochemistry, medical
  • Medicine(all)

Cite this

Ruotolo, A., Di Taranto, M. D., D'Agostino, M. N., Marotta, G., Gentile, M., Nunziata, M., Sodano, M., Di Noto, R., Vecchio, L. D., Rubba, P., & Fortunato, G. (2014). The novel variant p.Ser465Leu in the PCSK9 gene does not account for the decreased LDLR activity in members of a FH family. Clinical Chemistry and Laboratory Medicine, 52(8). https://doi.org/10.1515/cclm-2014-0144