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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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| Hlavní autoři: | , , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BioMed Central
2010
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| Témata: | |
| On-line přístup: | 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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