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

Author:

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

Publisher

Walter de Gruyter GmbH

Subject

Biochemistry (medical),Clinical Biochemistry,General Medicine

Reference20 articles.

1. Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy;Romano;Atherosclerosis,2010

2. The apolipoprotein mutation characteristics of subjects from kindreds;Pullinger;J Lipid Res,1999

3. Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy;Romano;Atherosclerosis,2010

4. Evidence for effect of mutant on apolipoprotein secretion as the cause of unusually severe dominant hypercholesterolaemia;Sun;Hum Mol Genet,2005

5. Controversies in familial hypercholesterolaemia : recommendations of the NICE guideline development group for the identification and management of familial hypercholesterolaemia;Minhas;Heart,2009

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