✦ LIBER ✦

Effect of a splice site mutation in LDLR gene and two variations in PCSK9 gene in Tunisian families with familial hypercholesterolaemia

✍ Scribed by Jelassi, A.; Slimani, A.; Jguirim, I.; Najah, M.; Maatouk, F.; Varret, M.; Slimane, M. N.

Book ID: 121408314
Publisher: Royal Society of Medicine Press
Year: 2010
Tongue: English
Weight: 163 KB
Volume: 48
Category: Article
ISSN: 0004-5632
DOI: 10.1258/acb.2010.010087

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

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

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

96 Additive effect of mutations in LDLR

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

📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 156 KB

A novel splice site mutation of the LDL

A novel splice site mutation of the LDL receptor gene in a Tunisian hypercholesterolemic family

✍ A. Jelassi; M. Najah; I. Jguirim; F. Maatouk; S. Lestavel; O.S. Laroussi; M. Rou 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 256 KB

Segregation of a novel LDLR gene mutatio

Segregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree

✍ George Miltiadous; Moses Elisaf; Stavroulla Xenophontos; Panayiotis Manoli; Mari 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 14 KB 👁 2 views

The molecular basis of familial hypercho

The molecular basis of familial hypercholesterolemia in Lebanon: Spectrum of LDLR mutations and role of PCSK9 as a modifier gene

✍ Marianne Abifadel; Jean-Pierre Rabès; Sélim Jambart; Georges Halaby; Marie-Hélèn 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 158 KB 👁 1 views

Autosomal dominant hypercholesterolemia (ADH), a major risk for coronary heart disease, is associated with mutations in the genes encoding the low-density lipoproteins receptor (LDLR), its ligand apolipoprotein B (APOB) or PCSK9 (Proprotein Convertase Subtilin Kexin 9). Familial hypercholesterolemia