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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...

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Detalles Bibliográficos
Autores principales: Futema, Marta, Taylor-Beadling, Alison, Williams, Maggie, Humphries, Steve E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2021
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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