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
Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia
✍ Scribed by Marianne Abifadel; Maryse Guerin; Suzanne Benjannet; Jean-Pierre Rabès; Wilfried Le Goff; Zélie Julia; Josée Hamelin; Valérie Carreau; Mathilde Varret; Eric Bruckert; Laurent Tosolini; Olivier Meilhac; Philippe Couvert; Dominique Bonnefont-Rousselot; John Chapman; Alain Carrié; Jean-Baptiste Michel; Annik Prat; Nabil G. Seidah; Catherine Boileau
- Book ID
- 118014924
- Publisher
- Elsevier Science
- Year
- 2012
- Tongue
- English
- Weight
- 576 KB
- Volume
- 223
- Category
- Article
- ISSN
- 0021-9150
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📜 SIMILAR VOLUMES
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.