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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 the cDNA and several genomic phage clones covering the entire human alphaTTP gene and determined the junctions between...

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PMID: 8602747
DOI: 10.1002/ana.410390305

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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