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

8 Citations (Scopus)
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

The novel variant p.Ser465Leu in the PCSK9 gene does not account for the decreased LDLR activity in members of a FH family. / Ruotolo, Anna; Di Taranto, Maria Donata; D'Agostino, Maria Nicoletta; Marotta, Gennaro; Gentile, Marco; Nunziata, Maria; Sodano, Marta; Di Noto, Rosa; Vecchio, Luigi Del; Rubba, Paolo; Fortunato, Giuliana.

In: Clinical Chemistry and Laboratory Medicine, Vol. 52, No. 8, 01.08.2014.

Research output: Contribution to journalArticle

Ruotolo, A, Di Taranto, MD, D'Agostino, MN, Marotta, G, Gentile, M, Nunziata, M, Sodano, M, Di Noto, R, Vecchio, LD, 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, vol. 52, no. 8. https://doi.org/10.1515/cclm-2014-0144
Ruotolo, Anna ; Di Taranto, Maria Donata ; D'Agostino, Maria Nicoletta ; Marotta, Gennaro ; Gentile, Marco ; Nunziata, Maria ; Sodano, Marta ; Di Noto, Rosa ; Vecchio, Luigi Del ; Rubba, Paolo ; Fortunato, Giuliana. / The novel variant p.Ser465Leu in the PCSK9 gene does not account for the decreased LDLR activity in members of a FH family. In: Clinical Chemistry and Laboratory Medicine. 2014 ; Vol. 52, No. 8.
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