References
Auborg, P. Nature Genet. 5, 105–106 (1993).
Pratt, V.M. et al. Am. J. med. Genet. 38, 136–139 (1991).
Hudson, L.D., Puckett, C., Berndt, J., Chan, J. & Gencic, S. Proc. natn. Acad. Sci. U.S.A. 86, 8128–8131 (1989).
Pham-Dinh, D. et al. Proc. natn. Acad. Sci. U.S.A. 88, 7562–7566 (1991).
Timmerman, V. et al. Nature Genet. 1, 171–175 (1992).
Valentijn, L.J. et al. Nature Genet. 1, 166–170 (1992).
Matsunami, N. et al. Nature Genet. 1, 176–179 (1992).
Cremers, F.P.M. et al. Hum. Genet. 77, 23–27 (1987).
Cremers, F.P.M. et al. Am. J. hum. Genet. 43, 452–461 (1988).
Valentijn, L.J. et al. Nature Genet. 2, 288–291 (1992).
Rao, B. et al New Engl. J. Med. 329, 96–101 (1993).
Lupski, J.R. et al. Nature Genet. 1, 29–33 (1992).
Chance, P.F. et al. Neurology 42, 2295–2299 (1992).
Upadhyaya, M. et al. Hum. Genet. 91, 392–394 (1993).
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Ellis, D., Malcolm, S. Proteolipid protein gene dosage effect in Pelizaeus–Merzbacher disease. Nat Genet 6, 333–334 (1994). https://doi.org/10.1038/ng0494-333
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DOI: https://doi.org/10.1038/ng0494-333
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