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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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Detalles Bibliográficos
Autores principales: Nissen, Peter H, Damgaard, Dorte, Stenderup, Anette, Nielsen, Gitte G, Larsen, Mogens L, Færgeman, Ole
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2006
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1523332/
https://www.ncbi.nlm.nih.gov/pubmed/16796766
http://dx.doi.org/10.1186/1471-2350-7-55