✦ LIBER ✦

Genomic characterization of two deletions in the LDLR gene in Tunisian patients with familial hypercholesterolemia

✍ Scribed by Awatef Jelassi; Afef Slimani; Jean Pierre Rabès; Imen Jguirim; Marianne Abifadel; Catherine Boileau; Mohamed Najah; Samir M'rabet; Jawher Mzid; Mohamed Naceur Slimane; Mathilde Varret

Book ID: 118427810
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 639 KB
Volume: 414
Category: Article
ISSN: 0009-8981
DOI: 10.1016/j.cca.2012.08.002

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Characterization of two low density lipo

Characterization of two low density lipoprotein receptor (LDLR) gene mutations in Tunisian familial hypercholesterolemia

📂 Article 📅 2002 🏛 Elsevier Science 🌐 English ⚖ 169 KB

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

Analysis of mutations in the LDLR gene i

Analysis of mutations in the LDLR gene in spanish patients with familial hypercholesterolemia by SSCP

✍ Mozas, P.; Cenarro, A.; Castillo, S.; Reyes, G.; Civeira, F.; Alonso, R.; Mata, 📂 Article 📅 2000 🏛 Elsevier Science 🌐 English ⚖ 144 KB

Two new large deletions in the low densi

Two new large deletions in the low density lipoprotein receptor (LDLR) gene not revealed by PCR-based molecular diagnosis of familial hypercholesterolemia

✍ Lise Bernier; Lucie Boulet; Madeleine Roy; Robert Dufour; François Larivière; Je 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 672 KB

The Type of LDLR Gene Mutation Predicts

The Type of LDLR Gene Mutation Predicts Cardiovascular Risk in Children with Familial Hypercholesterolemia

✍ Ornella Guardamagna; Gabriella Restagno; Elio Rolfo; Cristina Pederiva; Scipione 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 154 KB

Effect of a splice site mutation in LDLR

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

✍ Jelassi, A.; Slimani, A.; Jguirim, I.; Najah, M.; Maatouk, F.; Varret, M.; Slima 📂 Article 📅 2010 🏛 Royal Society of Medicine Press 🌐 English ⚖ 163 KB