Universal primer quantitative fluorescent multiplex (UPQFM) PCR: a method to detect major and minor rearrangements of the low density lipoprotein receptor gene

56 UK patients (14 children and 42 adults) with a clinical diagnosis of familial hypercholesterolaemia (FH) and no identified mutation in LDLR or APOB, along with DNA from 15 reported deletions and duplications and 4 normal controls.

Universal primer quantitative fluorescent multiplex (UPQFM) PCR assay

Detection of major rearrangements of the low density lipoprotein receptor (LDLR) genesurrogate