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Ataxia with isolated vitamin E deficiency is caused by mutations in the α–tocopherol transfer protein

✍ Scribed by Ouahchi, Karim; Arita, Makoto; Kayden, Herbert; Hentati, Fayçal; Hamida, Mongi Ben; Sokol, Ronald; Arai, Hiroyuki; Inoue, Keizo; Mandel, Jean-Louis; Koenig, Michel


Book ID
109915167
Publisher
Nature Publishing Group
Year
1995
Tongue
English
Weight
601 KB
Volume
9
Category
Article
ISSN
1061-4036

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Friedreich-like ataxia with retinitis pi
✍ Dr Takanori Yokota; Toshiaki Shiojiri; Takanari Gotoda; Makoto Arita; Hiroyuki A 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 763 KB

The a-tocopherol transfer protein (a-TTP) is a cytosolic liver protein that is presumed to function in the intracellular transport of a-tocopherol, the most biologically active form of vitamin E. We studied 4 unrelated patients with autosomal recessive Friedreich-like ataxia who had isolated vitamin