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Licensed Unlicensed Requires Authentication Published by De Gruyter March 6, 2014

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 and Giuliana Fortunato EMAIL logo

Corresponding author: Giuliana Fortunato, Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, via S. Pansini 5, 80131 Napoli; and CEINGE Biotecnologie Avanzate s.c. a r.l., via Gaetano Salvatore 486, 80145 Napoli, Italy, Phone: +39 0817464200, Fax: +39 0817462404, E-mail:

Acknowledgments

We gratefully acknowledge the contribution of the Biobank of CEINGE. Work supported by grants from Regione Campania (Convenzione CEINGE-Regione Campania, DGRC 1901/2009), from IRCCS Fondazione SDN and from POR Campania FSE 2007-2013, Project CREME.

Conflict of interest statement

Authors’ conflict of interest disclosure: The authors stated that there are no conflicts of interest regarding the publication of this article. Research support played no role in thestudy design; in the collection, analysis, and interpretationof data; in the writing of the report; or in the decision tosubmit the report for publication.

Research funding: None declared.

Employment or leadership: None declared.

Honorarium: None declared.

References

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Received: 2014-2-10
Accepted: 2014-2-12
Published Online: 2014-3-6
Published in Print: 2014-8-1

©2014 by Walter de Gruyter Berlin/Boston

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