Postmortem study of ataxia with retinitis pigmentosa by mutation of the α-tocopherol transfer protein gene

A new syndrome of ataxia and retinitis pigmentosa with vitamin E deficiency caused by the missense mutation of α-tocopherol transfer protein (α-TTP) gene was recently proposed. After studying the first postmortem case with this mutation pathologically and biochemically, whether the symptoms can be t...

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Autors principals: Yokota, T, Uchihara, T, Kumagai, J, Shiojiri, T, Pang, J, Arita, M, Arai, H, Hayashi, M, Kiyosawa, M, Okeda, R, Mizusawa, H
Format: Artigo
Idioma:Inglês
Publicat: BMJ Group 2000
Matèries:
Short Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1736898/
https://ncbi.nlm.nih.gov/pubmed/10727494
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp.68.4.521
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