Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia

BACKGROUND: Mutations in the LDLR 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 genomic rearrangements account for approximately 10% of mutations in the LDLR...

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Autori principali: Goldmann, Radan, Tichý, Lukáš, Freiberger, Tomáš, Zapletalová, Petra, Letocha, Ondřej, Soška, Vladimír, Fajkus, Jiří, Fajkusová, Lenka
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2010
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2923121/
https://ncbi.nlm.nih.gov/pubmed/20663204
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-11-115
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