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Inference of a molecular defect of apolipoprotein B in hypobetalipoproteinemia by linkage analysis in a large kindred.

Heterozygous hypobetalipoproteinemia is characterized by reduced plasma concentrations of LDL cholesterol, total triglycerides, and apo B to less than 50% of normal values. The molecular basis of this disorder remains unknown. The phenotype cosegregates with a DNA haplotype of the apo B gene in an I...

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Publicado en:J Clin Invest
Autores principales: Leppert, M, Breslow, J L, Wu, L, Hasstedt, S, O'Connell, P, Lathrop, M, Williams, R R, White, R, Lalouel, J M
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society for Clinical Investigation 1988
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Acceso en línea:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC303592/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2901434/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI113688
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