Familial hypercholesterolemia in St.-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia

• Main Authors: Konstantinov Vladimir O (Author), Lipovetsky Boris M (Author), Stenderup Anette (Author), Nilsen Gitte G (Author), Nissen Peter H (Author), Golubkov Valery I (Author), Mandelshtam Michail Y (Author), Damgaard Dorte (Author), Zakharova Faina M (Author), Denisenko Alexander D (Author), Vasilyev Vadim B (Author), Faergeman Ole (Author)
• 格式: 图书
• 出版: BMC, 2005-02-01T00:00:00Z.
• 主题: article
• 在线阅读: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Familial hypercholesterolemia is a human monogenic disease caused by population-specific mutations in the low density lipoprotein (LDL) receptor gene. Despite thirteen different mutations of the LDL receptor gene were reported from R...