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Genetic Heterogeneity of Familial Hypercholesterolemia: Repercussions for Molecular Diagnosis
Genetics of Familial Hypercholesterolemia (FH) is ascribable to pathogenic variants in genes encoding proteins leading to an impaired LDL uptake by the LDL receptor (LDLR). Two forms of the disease are possible, heterozygous (HeFH) and homozygous (HoFH), caused by one or two pathogenic variants, res...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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MDPI
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9961636/ https://www.ncbi.nlm.nih.gov/pubmed/36834635 http://dx.doi.org/10.3390/ijms24043224 |