alpha-Tocopherol transfer protein gene: exon skipping of all transcripts causes ataxia.

doi:10.1212/wnl.49.2.584

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Article

alpha-Tocopherol transfer protein gene: exon skipping of all transcripts causes ataxia.

Neurology - 1 Aug 1997

Tamaru Y, Hirano M, Kusaka H, Ito H, Imai T, Ueno S

Abstract excerpt

This report concerns the characterization of the alpha-tocopherol transfer protein (alpha-TTP) gene in a Japanese family affected by ataxia with isolated vitamin E deficiency (AVED). The sequence analysis revealed a G-to-A transition at the 3' end of exon 3 in both alleles, which predicts outspli...

Topics

Adult
Ataxia
Carrier Proteins
Cells, Cultured
Exons
Female
Fibroblasts
Humans
Mutation
Transcription, Genetic
Vitamin E

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