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Protein expression is regulated at multiple levels, including post-transcriptional and post-translational levels [32,33,34,35]

14: 117580 Naibitt D, Hough S, Gill H, et al

The two affected sisters from family 2 (hereafter indicated as SORD -/- #2 and SORD -/- #3) carried the common homozygous mutation ( SORD c.757delG/c.757delG ) and developed a late-onset disease (around their 40s) characterized by walking difficulties