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Liver transplantation in a subject with familial hypercholesterolemia carrying the homozygous p.W577R LDL-receptor gene mutation

✍ Scribed by Hartmut H-J. Schmidt; Uwe J.F. Tietge; Janine Buettner; Hannelore Barg-Hock; Gisela Offner; Susanne Schweitzer; Giorgos V. Dedoussis; Burkhard Rodeck; Hans C. Kallfelz; Hans-Jürgen Schlitt; Karl Oldhafer; Jürgen Klempnauer


Book ID
110889914
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
123 KB
Volume
22
Category
Article
ISSN
0902-0063

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Mutations in the gene for low density lipoprotein receptor (LDL-R) lead to a disorder called familial hypercholesterolemia (FH). Affected individuals are characterized by increased levels of cholesterol in plasma, tendinous xanthomas, arcus lipoides corneae, and premature coronary heart disease. Up