Analysis of Sequence Variations in the LDL Receptor Gene in Spain: General Gene Screening or Search for Specific Alterations? | Zendy

S. Blesa | Zendy; Ana-Bárbara García-García | Zendy; Sergio MartínezHervás | Zendy; María Luisa Mansego | Zendy; Verónica González-Albert | Zendy; Juan F. Ascaso | Zendy; Rafael Carmena | Zendy; José T. Real | Zendy; Felipe Javier Chaves | Zendy

Open Access

Analysis of Sequence Variations in the LDL Receptor Gene in Spain: General Gene Screening or Search for Specific Alterations?

Author(s) -

S. Blesa,

Ana-Bárbara García-García,

Sergio MartínezHervás,

María Luisa Mansego,

Verónica González-Albert,

Juan F. Ascaso,

Rafael Carmena,

José T. Real,

Felipe Javier Chaves

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.2006.067645

Subject(s) - familial hypercholesterolemia , ldl receptor , gene , genetics , coding region , biology , proband , exon , sequence (biology) , sequence analysis , intron , gene sequence , mutation , lipoprotein , phylogenetic tree , cholesterol , endocrinology

Familial hypercholesterolemia (FH) is a frequent form of autosomal-dominant hypercholesterolemia that predisposes to premature coronary atherosclerosis. FH is caused by sequence variations in the gene coding for the LDL receptor (LDLR). This gene has a wide spectrum of sequence variations, and genetic diagnosis can be performed by 2 strategies.

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