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