Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1

Familial hypercholesterolemia is an autosomal dominant disorder with a gene-dosage effect that is usually caused by mutations in the LDL receptor gene that disrupt normal clearance of LDL. In the homozygous form, it results in a distinctive clinical phenotype, characterized by inherited hypercholest...

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Main Authors: Eden, Emily R., Patel, Dilipkumar D., Sun, Xi-Ming, Burden, Jemima J., Themis, Michael, Edwards, Matthew, Lee, Philip, Neuwirth, Clare, Naoumova, Rossitza P., Soutar, Anne K.
Formato: Artigo
Idioma:Inglês
Publicado: American Society for Clinical Investigation 2002
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC151635/
https://ncbi.nlm.nih.gov/pubmed/12464675
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI16445
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