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Genetic Heterogeneity in Familial Hypercholesterolemia: Evidence for Two Different Mutations Affecting Functions of Low-Density Lipoprotein Receptor

โœ Scribed by Joseph L. Goldstein, Suzanna E. Dana, Gloria Y. Brunschede and Michael S. Brown


Book ID
123653097
Publisher
National Academy of Sciences
Year
1975
Tongue
English
Weight
987 KB
Volume
72
Category
Article
ISSN
0027-8424

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โœ Henrik K. Jensen; Thomas G. Jensen; Ole Faergeman; Lillian G. Jensen; Brage S. A ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 200 KB ๐Ÿ‘ 1 views

Mutations in genes are not necessarily pathogenic. Expression of mutant genes in cells can therefore be required to demonstrate that mutations in fact disturb protein function. This applies especially to missense mutations, which cause an amino acid to be replaced by another amino acid. In the prese