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A mutation inPCSK9causing autosomal-dominant hypercholesterolemia in a Utah pedigree

✍ Scribed by KirstenM. Timms; Susanne Wagner; MarkE. Samuels; Kristian Forbey; Howard Goldfine; Srikanth Jammulapati; MarkH. Skolnick; PaulN. Hopkins; SteveC. Hunt; DonnaM. Shattuck

Book ID
106133941
Publisher
Springer
Year
2004
Tongue
English
Weight
354 KB
Volume
114
Category
Article
ISSN
0340-6717

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πŸ“œ SIMILAR VOLUMES

Mutations in PCSK9 cause autosomal domin
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
✍ Abifadel, Marianne; Varret, Mathilde; RabΓ¨s, Jean-Pierre; Allard, Delphine; Ougu πŸ“‚ Article πŸ“… 2003 πŸ› Nature Publishing Group 🌐 English βš– 133 KB

Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol levels that is associated with mutations in the genes LDLR (encoding low-density lipoprotein receptor) or APOB (encoding apolipo