Genomic characterization of large rearrangements of the <it>LDLR </it>gene in Czech patients with familial hypercholesterolemia

• Main Authors: Fajkus Jiří (Author), Soška Vladimír (Author), Letocha Ondřej (Author), Zapletalová Petra (Author), Freiberger Tomáš (Author), Tichý Lukáš (Author), Goldmann Radan (Author), Fajkusová Lenka (Author)
• Format: Knjiga
• Izdano: BMC, 2010-07-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Mutations in the <it>LDLR </it>gene are the most frequent cause of Familial hypercholesterolemia, an autosomal dominant disease characterised by elevated concentrations of LDL in blood plasma. In many populations, large g...