REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31

Mutations in the receptor expression enhancing protein 1 (REEP1) have recently been reported to cause autosomal dominant hereditary spastic paraplegia (HSP) type SPG31. In a large collaborative effort, we screened a sample of 535 unrelated HSP patients for REEP1 mutations and copy number variations....

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Detaylı Bibliyografya
Asıl Yazarlar: Beetz, Christian, Schüle, Rebecca, Deconinck, Tine, Tran-Viet, Khanh-Nhat, Zhu, Hui, Kremer, Berry P. H., Frints, Suzanna G. M., van Zelst-Stams, Wendy A. G., Byrne, Paula, Otto, Susanne, Nygren, Anders O. H., Baets, Jonathan, Smets, Katrien, Ceulemans, Berten, Dan, Bernard, Nagan, Narasimhan, Kassubek, Jan, Klimpe, Sven, Klopstock, Thomas, Stolze, Henning, Smeets, Hubert J. M., Schrander-Stumpel, Constance T. R. M., Hutchinson, Michael, van de Warrenburg, Bart P., Braastad, Corey, Deufel, Thomas, Pericak-Vance, Margaret, Schöls, Ludger, de Jonghe, Peter, Züchner, Stephan
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2008
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Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC2841798/
https://ncbi.nlm.nih.gov/pubmed/18321925
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awn026
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