Ataxia with Vitamin E Deficiency: Refinement of Genetic Localization and Analysis of Linkage Disequilibrium by Using New Markers in 14 Families

Ataxia with vitamin E deficiency (AVED) is an autosomal recessive disease characterized clinically by neurological symptoms with often striking resemblance to those of Friedreich ataxia. This disorder has been reported previously as familial isolated vitamin E deficiency. We have mapped recently the...

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Bibliografiska uppgifter
Huvudupphovsmän: Doerflinger, Nathalie, Linder, Catherine, Ouahchi, Karim, Gyapay, Gabor, Weissenbach, Jean, Le Paslier, Denis, Rigault, Philippe, Belal, Samir, Hamida, Christiane Ben, Hentati, Faycal, Hamida, Mongi Ben, Pandolfo, Massimo, DiDonato, Stephano, Sokol, Ronald, Kayden, Herbert, Landrieu, Pierre, Durr, Alexandra, Brice, Alexis, Goutières, Françoise, Kohlschütter, Alfried, Sabouraud, Pascal, Benomar, Ali, Yahyaoui, Mohamed, Mandel, Jean-Louis, Koenig, Michel
Materialtyp: Artigo
Språk:Inglês
Publicerad: 1995
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Original Articles
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801469/
https://ncbi.nlm.nih.gov/pubmed/7726167
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