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

doi:10.1515/cclm-2014-0144

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

IRCCS SDN

Research output: Contribution to journal › Article

Original language	English
Journal	Clinical Chemistry and Laboratory Medicine
Volume	52
Issue number	8
DOIs	https://doi.org/10.1515/cclm-2014-0144
Publication status	Published - 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)

Access to Document

10.1515/cclm-2014-0144

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

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 journal › Article

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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