Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2011.01715.x/fullpdf
Reference34 articles.
1. Advances in hereditary spastic paraplegia.;Fink;Curr Opin Neurol,1997
2. Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms.;Salinas;Lancet Neurol,2008
3. Classification of the hereditary ataxias and paraplegias.;Harding;Lancet,1983
4. Hereditary spastic paraplegias: an update.;Depienne;Curr Opin Neurol,2007
5. Recent advances in the genetics of spastic paraplegias.;Stevanin;Curr Neurol Neurosci Rep,2008
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