Genetic heterogeneity in familial hypercholesterolemia: evidence for two different mutations affecting functions of low-density lipoprotein receptor.

Studies in cultured fibroblasts from patients with the clinical syndrome of homozygous familial hypercholesterolemia have disclosed two different mutations affecting the functions of the low density lipoprotein receptor. One of these mutations, described previously, results in a functionless recepto...

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Bibliographic Details
Main Authors: Goldstein, J L, Dana, S E, Brunschede, G Y, Brown, M S
Format: Artigo
Language:Inglês
Published: 1975
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC432472/
https://ncbi.nlm.nih.gov/pubmed/236556
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