Mutations of the low density lipoprotein
✍
Tohru Funahashi; Yasuko Miyake; Akira Yamamoto; Yuji Matsuzawa; Bun-ichiro Kishi
📂
Article
📅
1988
🏛
Springer
🌐
English
⚖ 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