Article
RFLPs of the LDL-receptor gene: their use in the diagnosis of FH and in evaluation of different levels of gene expression on normal subjects.
European journal of epidemiology - 1 May 1992
Bertolini S, Coviello D A, Masturzo P, Zucchetto E, Elicio N, Balestreri R, Orecchini G, Calandra S, Humphries S
Abstract excerpt
The usefulness of the RFLPs of the LDL-receptor gene in early diagnosis of Familial Hypercholesterolemia (FH) was investigated in 122 FH-families. Four RFLPs, produced by digestion with the enzymes PvuII, ApaLI and AvaII/XbaI were able to detect the affected gene and to follow the inheritance of the disease in 72 out of 97 families (74%). In the remaining 25 families, unambiguous diagnosis was possible in 66% of...
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