Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia
β Scribed by TP Leren
- Book ID
- 110725696
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 87 KB
- Volume
- 65
- Category
- Article
- ISSN
- 0009-9163
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Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol levels that is associated with mutations in the genes LDLR (encoding low-density lipoprotein receptor) or APOB (encoding apolipo
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
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.