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4.P.309 Functional characterization of low density lipoprotein receptor gene mutations in patients with familial hypercholesterolemia

✍ Scribed by Raungaard, B.; Heath, F.; Brorholt-Petersen, J.U.; Jensen, H.K.; Faergeman, O.


Book ID
122888470
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
154 KB
Volume
134
Category
Article
ISSN
0021-9150

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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