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Acanthocytosis
- ... VPS13A gene have been found to cause chorea-acanthocytosis. Most of these mutations insert or delete one ... specific to single families, although people with chorea-acanthocytosis who are French-Canadian or Japanese tend to ...
- ... the MTTP gene have been found to cause abetalipoproteinemia. This condition impairs the normal absorption of fats ... is made. All MTTP gene mutations that cause abetalipoproteinemia impair beta-lipoprotein formation and result in a ...
- ... in people with a condition called HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration). HARP was historically ...