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Autor:
V. M. R. Heydendael, R. M. W. Hofstra, Charles H.C.M. Buys, Carel Meijers, Saskia M. Maas, Ying Wu, J.J. van den Ende, Jan Osinga, R.S.V.M. Severijnen, L.E. Siderius, Rein P. Stulp, Alice S. Brooks, P Elfferich, K.M. Bax
Publikováno v:
Human mutation, 15(5), 418-429. Wiley-Liss Inc.
Human Mutation, 15, 5, pp. 418-29
Human Mutation, 15, 418-29
Human Mutation, 15, 5, pp. 418-29
Human Mutation, 15, 418-29
Hirschsprung disease (HSCR) is a congenital disorder characterised by intestinal obstruction due to an absence of intramural ganglia along variable lengths of the intestine. RET is the major gene involved in HSCR. Mutations in the GDNF gene, and enco