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- W2142659801 abstract "Numerous genes causing autosomal recessive hereditary spastic paraplegia (AR HSP) have been described. Despite this, in many families the causative gene and mutation are unknown. In this study we sequenced the Pi4k2a gene, whose knockout has been shown to cause a typical HSP model in mice, in 24 index cases of autosomal recessive HSP not known to be linked to any other HSP locus. No pathogenic changes were identified in exons or splice sites, suggesting the Pi4k2a gene may not be a cause of AR HSP in humans." @default.
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- W2142659801 date "2010-12-30" @default.
- W2142659801 modified "2023-09-26" @default.
- W2142659801 title "Screening for mutations in the phosphatidylinositol 4-kinase 2-alpha gene in autosomal recessive hereditary spastic paraplegia" @default.
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- W2142659801 doi "https://doi.org/10.3109/17482968.2010.543689" @default.
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