Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment.

doi:10.1111/j.1469-1809.2012.00724.x

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Article

Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment.

Annals of human genetics - 1 Sept 2012

Usifo Ebele, Leigh Sarah E A, Whittall Ros A, Lench Nicholas, Taylor Alison, Yeats Corin, Orengo Christine A, Martin Andrew C R, Celli Jacopo, Humphries Steve E

Abstract excerpt

Familial hypercholesterolemia (FH) is caused predominately by variants in the low-density lipoprotein receptor gene (LDLR). We report here an update of the UCL LDLR variant database to include variants reported in the literature and in-house between 2008 and 2010, transfer of the database to LOVDv.2.0 platform (https://grenada.lumc.nl/LOVD2/UCL-Heart/home.php?select_db=LDLR) and pathogenicity analysis. The...

Topics

Databases as Topic
Genetic Variation
Humans
Hyperlipoproteinemia Type II
Mutation
Protein Isoforms
Receptors, LDL

Source

Open in PubMed

Identifiers

PMID: 22881376
DOI: 10.1111/j.1469-1809.2012.00724.x

Genes

LDLR

Provenance

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