Article
Liver transplantation in a subject with familial hypercholesterolemia carrying the homozygous p.W577R LDL-receptor gene mutation.
Clinical transplantation - 1 Jan 2000
Schmidt Hartmut H-J, Tietge Uwe J F, Buettner Janine, Barg-Hock Hannelore, Offner Gisela, Schweitzer Susanne, Dedoussis Giorgos V, Rodeck Burkhard, Kallfelz Hans C, Schlitt Hans-Jürgen, Oldhafer Karl, Klempnauer Jürgen
Abstract excerpt
Mutations within the low density lipoprotein (LDL)-receptor gene result in familial hypercholesterolemia, an autosomal dominant inherited disease. Clinical homozygous affected subjects die of premature coronary artery disease as early as in early childhood. We identified a girl at the age of five...
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