𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Plasma levels of PCSK9 and phenotypic variability in familial hypercholesterolemia

✍ Scribed by Huijgen, R.; Fouchier, S. W.; Denoun, M.; Hutten, B. A.; Vissers, M. N.; Lambert, G.; Kastelein, J. J. P.

Book ID
115503895
Publisher
Lipid Research, Inc.
Year
2012
Tongue
English
Weight
529 KB
Volume
53
Category
Article
ISSN
0022-2275

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Novel mutations of the PCSK9 gene cause
Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia
✍ Delphine Allard; Sabine Amsellem; Marianne Abifadel; MΓ©lanie Trillard; Martine D πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 254 KB

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
Erratum: Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia
✍ 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.