Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia

Patients with autosomal dominant hypercholesterolemia (ADH) have a high risk of developing cardiovascular disease that can be effectively treated using statin drugs. Molecular diagnosis and family cascade screening is recommended for early identification of individuals at risk, but up to 40% of fami...

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Détails bibliographiques
Auteurs principaux: Thomas, Ellen R A, Atanur, Santosh S, Norsworthy, Penny J, Encheva, Vesela, Snijders, Ambrosius P, Game, Laurence, Vandrovcova, Jana, Siddiq, Afshan, Seed, Mary, Soutar, Anne K, Aitman, Timothy J
Format: Artigo
Langue:Inglês
Publié: Blackwell Publishing Ltd 2013
Sujets:
Original Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3865582/
https://ncbi.nlm.nih.gov/pubmed/24498611
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.17
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