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High density lipoprotein deficiency with xanthomas. A defect in reverse cholesterol transport caused by a point mutation in the apolipoprotein A-I gene.

A 7-yr-old girl with high density lipoprotein (HDL) deficiency and xanthomas has been identified in a Turkish kindred with repetitive consanguinity. She has severely reduced HDL-cholesterol and no apolipoprotein (apo) A-I. ApoA-II is reduced, whereas apoA-IV and apoC-III are normal. ApoB and low den...

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Dades bibliogràfiques
Publicat a:J Clin Invest
Autors principals: Lackner, K J, Dieplinger, H, Nowicka, G, Schmitz, G
Format: Artigo
Idioma:Inglês
Publicat: American Society for Clinical Investigation 1993
Matèries:
Accés en línia:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC288407/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7693760/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI116830
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