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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Detalles Bibliográficos
Autores principales: Goldmann, Radan, Tichý, Lukáš, Freiberger, Tomáš, Zapletalová, Petra, Letocha, Ondřej, Soška, Vladimír, Fajkus, Jiří, Fajkusová, Lenka
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2923121/
https://www.ncbi.nlm.nih.gov/pubmed/20663204
http://dx.doi.org/10.1186/1471-2350-11-115

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