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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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Novel mutations of the PCSK9 gene cause
✍ Delphine Allard; Sabine Amsellem; Marianne Abifadel; Mélanie Trillard; Martine D 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 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
✍ Delphine Allard; Sabine Amsellem; Marianne Abifadel; Mélanie Trillard; Martine D 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 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.