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Genetic testing for familial hypercholesterolemia—past, present, and future
In the early 1980s, the Nobel Prize winning cellular and molecular work of Mike Brown and Joe Goldstein led to the identification of the LDL receptor gene as the first gene where mutations cause the familial hypercholesterolemia (FH) phenotype. We now know that autosomal dominant monogenic FH can be...
Autores principales: | Futema, Marta, Taylor-Beadling, Alison, Williams, Maggie, Humphries, Steve E. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Society for Biochemistry and Molecular Biology
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8572866/ https://www.ncbi.nlm.nih.gov/pubmed/34666015 http://dx.doi.org/10.1016/j.jlr.2021.100139 |
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