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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Lackner, K J, Dieplinger, H, Nowicka, G, Schmitz, G
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1993
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC288407/
https://ncbi.nlm.nih.gov/pubmed/7693760
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge