Mutations of the low density lipoprotein
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Tohru Funahashi; Yasuko Miyake; Akira Yamamoto; Yuji Matsuzawa; Bun-ichiro Kishi
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Article
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1988
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Springer
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English
β 595 KB
Mutations of the low density lipoprotein (LDL) receptor in 16 Japanese kindreds with homozygous familial hypercholesterolemia (FH) were studied using an anti-LDL receptor antibody. The LDL receptor mutations in Japanese FH were heterogeneous and included defects in synthesis, post-translational proc