Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors.

This paper describes an unusual kindred with familial hypercholesterolemia in which one-third of the relatives with a mutant LDL receptor gene have normal plasma cholesterol concentrations. The proband, a 9-yr-old boy with a plasma cholesterol value greater than 500 mg/dl, is homozygous for a point...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:J Clin Invest
Päätekijät: Hobbs, H H, Leitersdorf, E, Leffert, C C, Cryer, D R, Brown, M S, Goldstein, J L
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: American Society for Clinical Investigation 1989
Aiheet:
Research Article
Linkit:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC548929/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2760205/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI114212
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