Article
Two novel partial deletions of LDL-receptor gene in Italian patients with familial hypercholesterolemia (FH Siracusa and FH Reggio Emilia).
Atherosclerosis - 1 Mar 1996
Garuti R, Lelli N, Barozzini M, Tiozzo R, Ghisellini M, Simone M L, Li Volti S, Garozzo R, Mollica F, Vergoni W, Bertolini S, Calandra S
Abstract excerpt
In the present study we report two novel partial deletions of the LDL-R gene. The first (FH Siracusa), found in an FH-heterozygote, consists of a 20 kb deletion spanning from the 5' flanking region to the intron 2 of the LDL-receptor gene. The elimination of the promoter and the first two exons prevents the transcription of the deleted allele, as shown by Northern blot analysis of LDL-R mRNA isolated from the...
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