Associated Papers
Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes.
Yu-Wai-Man P et al.
The British Journal of Ophthalmology, 2014
Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.
Romano A et al.
Human Mutation, 2013
23280630 (PubMed )
Supplement: humu0034-0525-SD1.pdf
Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene.
Vermeer S et al.
The Journal of Molecular Diagnostics : Jmd, 2009
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