[Taking into account our previously described patient with a deletion in the 3' part of the gene, this means that in four out of 70 UK patients with familial hypercholesterolaemia (6%), the defect is caused by a detectable deletion of part of the coding portion of the low density lipoprotein receptor gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE