Rare APOA5 mutations--clinical consequences, metabolic and functional effects: an ENID review.

@article{Talmud2007RareAM,
  title={Rare APOA5 mutations--clinical consequences, metabolic and functional effects: an ENID review.},
  author={Philippa J. Talmud},
  journal={Atherosclerosis},
  year={2007},
  volume={194 2},
  pages={287-92}
}
In 2001, a gene encoding a novel apolipoprotein (apo), APOA5, was identified by comparative human/mouse sequencing. The encoded protein, apoAV, had been missed in routine apolipoprotein identification because it occurs at very low plasma concentrations and only DNA analysis led to its identification. Knockout and transgenic mouse models of apoAV showed an inverse relationship with plasma triglyceride levels. In human studies, common APOA5 variants have shown near consistent association with… CONTINUE READING

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