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Genetics of the low density lipoprotein receptor: : I. Low density lipoprotein receptor activity in cultured fibroblasts from subjects with or without familial hypercholesterolemia

✍ Scribed by Kjell Maartmann-Moe; Pal Berg-Johnsen


Book ID
119839225
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
806 KB
Volume
20
Category
Article
ISSN
0009-9163

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✍ 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