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Ataxia caused by mutations in the α-tocopherol transfer protein gene
A 48 year old woman with ataxia with vitamin E deficiency is described. Gene analysis identified two point mutations in exon 1 of the α-tocopherol transfer protein (α-TTP) gene, one missense mutation and an upstream initiation codon mutation in the 5'-untranslated region (Kozak sequence). The l...
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| Autori principali: | , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BMJ Group
2000
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1737064/ https://ncbi.nlm.nih.gov/pubmed/10896705 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp.69.2.254 |
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