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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: Usuki, F., Maruyama, K.
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Group 2000
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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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