Article
Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency.
Annals of neurology - 1 Mar 1996
Hentati A, Deng H X, Hung W Y, Nayer M, Ahmed M S, He X, Tim R, Stumpf D A, Siddique T, Ahmed
Abstract excerpt
Familial vitamin E deficiency (AVED) causes ataxia and peripheral neuropathy that resembles Friedreich's ataxia. AVED is thought to be caused by a defect in the transport of vitamin E in liver cells, which is the probable function of alpha-tocopherol transfer protein (alphaTTP). We have cloned th...
Topics
- Adolescent
- Adult
- Age of Onset
- Base Sequence
- Carrier Proteins
- Chromosomes, Human, Pair 8
- Cloning, Molecular
- Codon, Terminator
- DNA Primers
- DNA, Complementary
- Exons
- Genetic Carrier Screening
- Humans
- In Situ Hybridization
- Male