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

• मुख्य लेखकों: Larsen Mogens L (लेखक), Stenderup Anette (लेखक), Nielsen Gitte G (लेखक), Jensen Lillian G (लेखक), Nissen Peter H (लेखक), Damgaard Dorte (लेखक), Faergeman Ole (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2005-04-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...