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
Identification of the 408 valine to methionine mutation in the low density lipoprotein receptor in a German family with familial hypercholesterolemia
✍ Scribed by H. Schuster; H. J. Fischer; C. Keller; G. Wolfram; N. Zöllner
- Publisher
- Springer
- Year
- 1993
- Tongue
- English
- Weight
- 265 KB
- Volume
- 91
- Category
- Article
- ISSN
- 0340-6717
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