Genetic analysis of a kindred with familial hypobetalipoproteinemia. Evidence for two separate gene defects: one associated with an abnormal apolipoprotein B species, apolipoprotein B-37; and a second associated with low plasma concentrations of apolipoprotein B-100.

In 1979 Steinberg and colleagues recognized a unique kindred with normotriglyceridemic hypobetalipoproteinemia (1979. J. Clin. Invest. 64:292-301). We have undertaken an intensive reexamination of this kindred and have studied 41 family members in three generations. In this family we document the pr...

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Udgivet i:J Clin Invest
Main Authors: Young, S G, Bertics, S J, Curtiss, L K, Dubois, B W, Witztum, J L
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 1987
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC424528/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3473077/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI113026
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