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New type of the internalization-defective low-density lipoprotein receptor owing to two-nucleotide deletion (2199delCA or 2201delCA) in Japanese patients with familial hypercholesterolaemia
Authors:Tashiro,Endo,Bujo,Shinomiya,Morisaki,&   Saito
Affiliation:The Second Department of Internal Medicine, School of Medicine, Chiba University, Chiba, Japan,;Seisuikan Hospital, Chabatake, Susono, Shizuoka, Japan
Abstract:
Keywords:Cytoplasmic domain    familial hypercholesterolaemia    low-density lipoprotein receptor    internalization defect    O-linked sugar domain    transmembrane domain
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