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Detection of large deletions in the LDL receptor gene with quantitative PCR methods

BACKGROUND: Familial Hypercholesterolemia (FH) is a common genetic disease and at the molecular level most often due to mutations in the LDL receptor gene. In genetically heterogeneous populations, major structural rearrangements account for about 5% of patients with LDL receptor gene mutations. MET...

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Detalhes bibliográficos
Main Authors: Damgaard, Dorte, Nissen, Peter H, Jensen, Lillian G, Nielsen, Gitte G, Stenderup, Anette, Larsen, Mogens L, Faergeman, Ole
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2005
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1087844/
https://ncbi.nlm.nih.gov/pubmed/15842735
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-6-15
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