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

✍ Scribed by Afef Slimani; Awatef Jelassi; Imen Jguirim; Mohamed Najah; Lamia Rebhi; Asma Omezzine; Faouzi Maatouk; Khaldoun Ben Hamda; Maha Kacem; Jean-Pierre Rabès; Marianne Abifadel; Catherine Boileau; Mustapha Rouis; Mohamed Naceur Slimane; Mathilde Varret


Book ID
118424057
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
374 KB
Volume
222
Category
Article
ISSN
0021-9150

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✍ 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