References
Collins, F.S. Nature Genet. 1, 3–6 (1992).
Ton, C.C.T. et al. Cell 67, 1059–1074 (1991).
Vortkamp, A., Gessler, M. & Grzeschik, K.-H. Nature 352, 539–540 (1991).
Tommerup, N. Hum. molec. Genet. 2, 1571–1576 (1993).
Halford, S. et al. Hum. molec. Genet. 2, 2099–2107 (1993).
Wilson, D.I. et al. J. med. Genet. 30, 852–856 (1993).
Romeo, G. et al. Nature 367, 377–378 (1994).
Edery, P. et al. Nature 367, 378–379 (1994).
Reiner, O. et al. Nature 364, 717–721 (1993).
Zinn, A.R., Page, D.C. & Fisher, E.M.C. Trends Genet. 9, 90–93 (1993).
Ewart, A.K. et al. Nature Genet. 5, 11–16 (1993).
Sternberg, P.W. Curr. Biol. 3, 763–765 (1993).
Nocka, K. et al. EMBO J. 9, 1805–1813 (1990).
Reith, A.D. et al. Genes Dev. 4, 390–400 (1990).
Schneider, R. Trends Biochem. 17, 468–469 (1992).
Kongsuwan, K. et al. Nature 317, 555–558 (1985).
Sauer, F. & Jackle, H. Nature 364, 454–456 (1993).
Davies, K.A. & Lux, S.E. Trends Genet. 5, 222–227 (1989).
Beggs, A.H. et al. Proc. natn. Acad. Sci. U.S.A. 89, 623–627 (1992).
Kernit, D.M., Layton, W.M. & Mattysse, S. Am. J. hum. Genet. 41, 979–985 (1987).
Crosby, J.L., Varnum, D.S. & Nadeau, J.H. Am. J. hum. Genet. 52, 866–874 (1993).
Nicholson, G.A. et al. Nature Genet. 6, 263–266 (1994).
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Fisher, E., Scambler, P. Human haploinsufficiency — one for sorrow, two for joy. Nat Genet 7, 5–7 (1994). https://doi.org/10.1038/ng0594-5
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DOI: https://doi.org/10.1038/ng0594-5
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