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Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia

✍ 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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Mutations in PCSK9 cause autosomal domin
✍ Abifadel, Marianne; Varret, Mathilde; RabΓ¨s, Jean-Pierre; Allard, Delphine; Ougu πŸ“‚ Article πŸ“… 2003 πŸ› Nature Publishing Group 🌐 English βš– 133 KB

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

Novel mutations of the PCSK9 gene cause
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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

Erratum: Novel mutations of the PCSK9 ge
✍ Delphine Allard; Sabine Amsellem; Marianne Abifadel; MΓ©lanie Trillard; Martine D πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 18 KB

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.