Autosomal dominant hypercholesterolemia (ADH) is a frequent (1/500) monogenic inherited disorder characterized by isolated elevation of LDL leading to premature cardiovascular disease. ADH is known to result from mutations at two main loci: LDLR (encoding the low density lipoprotein receptor), and A
Characterization of novel mutations in the catalytic domain of the PCSK9 gene
✍ Scribed by J. Cameron; Ø. L. Holla; J. K. Laerdahl; M. A. Kulseth; T. Ranheim; T. Rognes; K. E. Berge; T. P. Leren
- Book ID
- 108862457
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 540 KB
- Volume
- 263
- Category
- Article
- ISSN
- 0954-6820
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The original article to which this Erratum refers was published in Human Mutation 26: 497 (2005) In Table 2, the first footnote that reads "\*Associated with p.D347Y on the same allele." should read "\*Associated with p.D347Y." as it is not known if the two mutations are in cis or in trans.
Hypercholesterolemia is one of the major causes of coronary heart disease (CHD). The genes encoding the low-density lipoprotein receptor and its ligand apolipoprotein B, have been the two genes classically implicated in autosomal dominant hypercholesterolemia (ADH). Our discovery in 2003 of the firs
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