A 10-bp deletion in the apolipoprotein epsilon gene causing apolipoprotein E deficiency and severe type III hyperlipoproteinemia
Type III hyperlipoproteinemia (HLP) is usually associated with homozygosity for apolipoprotein (apo) E2. We identified a 30-year-old male German of Hungarian ancestry with severe type III HLP and apo E deficiency. The disease was expressed in an extreme phenotype with multiple cutaneous xanthomas. A...
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| Hauptverfasser: | , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
1996
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| In: |
The American journal of human genetics
Year: 1996, Jahrgang: 58, Heft: 2, Pages: 281-291 |
| ISSN: | 1537-6605 |
| Online-Zugang: | Verlag, kostenfrei, Volltext: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1914549/ Verlag, kostenfrei, Volltext: https://pmc.ncbi.nlm.nih.gov/articles/PMC1914549/pdf/ajhg00015-0031.pdf |
| Verfasserangaben: | Giso Feussner, Jürgen Dobmeyer, Hermann-Josef Gröne, Stefan Lohmer, and Stefan Wohlfeil |