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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Detalles Bibliográficos
Autores principales: Damgaard, Dorte, Nissen, Peter H, Jensen, Lillian G, Nielsen, Gitte G, Stenderup, Anette, Larsen, Mogens L, Faergeman, Ole
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2005
Materias:
Technical Advance
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1087844/
https://www.ncbi.nlm.nih.gov/pubmed/15842735
http://dx.doi.org/10.1186/1471-2350-6-15

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1087844/
https://www.ncbi.nlm.nih.gov/pubmed/15842735
http://dx.doi.org/10.1186/1471-2350-6-15

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