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...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Goldmann, Radan, Tichý, Lukáš, Freiberger, Tomáš, Zapletalová, Petra, Letocha, Ondřej, Soška, Vladimír, Fajkus, Jiří, Fajkusová, Lenka
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2010
Materias:
Research Article
Acceso en línea: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
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares