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Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects

BACKGROUND: Familial Hypercholesterolemia is a common autosomal dominantly inherited disease that is most frequently caused by mutations in the gene encoding the receptor for low density lipoproteins (LDLR). Deletions and other major structural rearrangements of the LDLR gene account for approximate...

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Detalhes bibliográficos
Main Authors: Nissen, Peter H, Damgaard, Dorte, Stenderup, Anette, Nielsen, Gitte G, Larsen, Mogens L, Færgeman, Ole
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2006
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1523332/
https://ncbi.nlm.nih.gov/pubmed/16796766
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-7-55
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