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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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Detalhes bibliográficos
Main Authors: Goldmann, Radan, Tichý, Lukáš, Freiberger, Tomáš, Zapletalová, Petra, Letocha, Ondřej, Soška, Vladimír, Fajkus, Jiří, Fajkusová, Lenka
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2010
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Acesso em linha: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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