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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...

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Bibliografiske detaljer
Main Authors: Hobbs, H H, Leitersdorf, E, Leffert, C C, Cryer, D R, Brown, M S, Goldstein, J L
Format: Artigo
Sprog:Inglês
Udgivet: 1989
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC548929/
https://ncbi.nlm.nih.gov/pubmed/2760205
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