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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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2013
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