. . . . . . . . . . . . "[Familial hypercholesterolaemia (FH) is a genetic disease in which low-density lipoproteins are defectively removed from plasma as a result of mutations that impair the function either of the LDL receptor or of the apolipoprotein B.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2015-02-27"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2015-08-25T14:39:58+02:00"^^ . . . . . . . . . . . "v3.0.0.0" . "v3.0.0" .