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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Bibliographic Details
Main Authors: Marta Futema, Alison Taylor-Beadling, Maggie Williams, Steve E. Humphries
Format: Article
Language:English
Published: Elsevier 2021-01-01
Series:Journal of Lipid Research
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227521001218