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

• Hoofdauteurs: Fajkus Jiří (Auteur), Soška Vladimír (Auteur), Letocha Ondřej (Auteur), Zapletalová Petra (Auteur), Freiberger Tomáš (Auteur), Tichý Lukáš (Auteur), Goldmann Radan (Auteur), Fajkusová Lenka (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2010-07-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: 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...