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Heterozygous familial hypercholesterolemia: A new point-mutation (1372del2) in the LDL-receptor gene which causes severe hypercholesterolemia

✍ Scribed by Kurt Widhalm; Christa Iro; Annabell Lindemayr; Helena Schmidt; Gert Kostner


Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
12 KB
Volume
14
Category
Article
ISSN
1059-7794

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Familial hypercholesterolemia (FH) is a genetic disorder caused by mutations in the low density lipoprotein (LDL)-receptor gene. We found a new mutation in the splice acceptor site of intron 1 of the LDL receptor gene, which is designated as 68-1 G->C according to the nomenclature suggested by , in