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

• Autores principales: Larsen Mogens L (Autor), Stenderup Anette (Autor), Nielsen Gitte G (Autor), Jensen Lillian G (Autor), Nissen Peter H (Autor), Damgaard Dorte (Autor), Faergeman Ole (Autor)
• Formato: Libro
• Publicado: BMC, 2005-04-01T00:00:00Z.
• Materias: article
• Acceso en línea: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>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 abo...