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A second leaky splice-site mutation in the spastin gene.
Svenson IK, Ashley-Koch AE, Pericak-Vance MA, Marchuk DA. Svenson IK, et al. Am J Hum Genet. 2001 Dec;69(6):1407-9. doi: 10.1086/324593. Am J Hum Genet. 2001. PMID: 11704932 Free PMC article. No abstract available.