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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...
Autores principales: | 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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Blackwell Publishing Ltd
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865582/ https://www.ncbi.nlm.nih.gov/pubmed/24498611 http://dx.doi.org/10.1002/mgg3.17 |
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