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43 NEW GAIN OF FUNCTIONS MUTATIONS IN PCSK9 AND THEIR IMPACT IN FAMILIAL HYPERCHOLESTEROLEMIA

✍ Scribed by AbiFadel, M.; Rabès, J.-P.; Guérin, M.; Carreau, V.; Carrié, A.; Varret, M.; Samson-Bouma, M.-E.; Tosolini, L.; Erlich, D.; Couvert, P.; Bonnefont-Rousselot, D.; Bruckert, E.; Prat, A.; Seidah, N.; Boileau, C.

Book ID: 118639050
Publisher: Elsevier Science
Year: 2011
Tongue: English
Weight: 45 KB
Volume: 12
Category: Article
ISSN: 1567-5688
DOI: 10.1016/s1567-5688(11)70044-7

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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