✦ LIBER ✦

A novel mutation of the PCSK9 gene in a patient with severe hypercholesterolemia

Book ID: 117638337
Publisher: Elsevier Science
Year: 2003
Tongue: English
Weight: 118 KB
Volume: 13
Category: Article
ISSN: 0939-4753
DOI: 10.1016/s0939-4753(03)80079-0

No coin nor oath required. For personal study only.

📜 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; 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

Mutations in the PCSK9 gene in Norwegian

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

✍ TP Leren 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 87 KB

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; 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.

Effect of mutations in LDLR and PCSK9 ge

Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients

✍ Afef Slimani; Awatef Jelassi; Imen Jguirim; Mohamed Najah; Lamia Rebhi; Asma Ome 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 374 KB

Identification of a heterozygous compoun

Identification of a heterozygous compound individual with Autosomal Dominant Hypercholesterolemia harbouring a mutation in the LDL-R gene and in the PCSK9 gene

📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 141 KB

Additive effect of mutations in LDLR and

Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia

✍ Livia Pisciotta; Claudio Priore Oliva; Angelo Baldassare Cefalù; Davide Noto; An 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 232 KB