Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2011.01624.x/fullpdf
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2. Linkage of ‘pure’ autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity.;Hentati;Hum Mol Genet,1994
3. Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus.;Muglia;Neurogenetics,2004
4. Spastic paraplegia 5: locus refinement, candidate gene analysis and clinical description.;Klebe;Am J Med Genet B Neuropsychiatr Genet,2007
5. A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia.;Wilkinson;Neurology,2003
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