Model System for Phenotypic Characterization of Sequence Variations in the LDL Receptor Gene | Zendy

Trine Ranheim | Zendy; Mari Ann Kulseth | Zendy; Knut Erik Berge | Zendy; Trond P. Leren | Zendy

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Model System for Phenotypic Characterization of Sequence Variations in the LDL Receptor Gene

Author(s) -

Trine Ranheim,

Mari Ann Kulseth,

Knut Erik Berge,

Trond P. Leren

Publication year - 2006

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/clinchem.2006.068627

Subject(s) - phenotype , sequence (biology) , gene , genetics , computational biology , gene sequence , biology , phylogenetic tree

Sequence variations in the LDL receptor (LDLR) gene cause defects of LDLR protein production and function through different molecular mechanisms. Here we describe a cell model system for the phenotypic characterization of sequence variations in the LDLR gene. Well-known sequence variations belonging to LDLR classes 2 to 5 (p.G565V, p.I161D, p.Y828C, and p.V429M) were studied in CHO and HepG2 cells.

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