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Mutations in the Low Density Lipoprotein Receptor Gene in Japanese Patients with Familial Hypercholesterolemia

✍ Scribed by HIROSHI MABUCHI; KOUJI KAJINAMI; HAJIME FUJITA; JUNJI KOIZUMI; RYOYU TAKEDA


Book ID
119865187
Publisher
John Wiley and Sons
Year
1990
Tongue
English
Weight
244 KB
Volume
598
Category
Article
ISSN
0890-6564

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Mutations of the low density lipoprotein
✍ Tohru Funahashi; Yasuko Miyake; Akira Yamamoto; Yuji Matsuzawa; Bun-ichiro Kishi πŸ“‚ Article πŸ“… 1988 πŸ› Springer 🌐 English βš– 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