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Apparent SMA I unlinked to 5q.
Cobben JM, Scheffer H, de Visser M, Begeer JH, Molenaar WM, van der Steege G, Buys CH, van Ommen GJ, Ten Kate LP. Cobben JM, et al. Among authors: scheffer h. J Med Genet. 1994 Mar;31(3):242-4. doi: 10.1136/jmg.31.3.242. J Med Genet. 1994. PMID: 8014975 Free PMC article.
Eight closely linked loci place the Wilson disease locus within 13q14-q21.
Bowcock AM, Farrer LA, Hebert JM, Agger M, Sternlieb I, Scheinberg IH, Buys CH, Scheffer H, Frydman M, Chajek-Saul T, et al. Bowcock AM, et al. Among authors: scheffer h. Am J Hum Genet. 1988 Nov;43(5):664-74. Am J Hum Genet. 1988. PMID: 3189332 Free PMC article.
Autosomal recessive cerebellar ataxias: the current state of affairs.
Vermeer S, van de Warrenburg BP, Willemsen MA, Cluitmans M, Scheffer H, Kremer BP, Knoers NV. Vermeer S, et al. Among authors: scheffer h. J Med Genet. 2011 Oct;48(10):651-9. doi: 10.1136/jmedgenet-2011-100210. Epub 2011 Aug 19. J Med Genet. 2011. PMID: 21856962 Review.
Three novel KCNA1 mutations in episodic ataxia type I families.
Scheffer H, Brunt ER, Mol GJ, van der Vlies P, Stulp RP, Verlind E, Mantel G, Averyanov YN, Hofstra RM, Buys CH. Scheffer H, et al. Hum Genet. 1998 Apr;102(4):464-6. doi: 10.1007/s004390050722. Hum Genet. 1998. PMID: 9600245
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