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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...
Autores principales: | , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2010
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Materias: | |
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 |