A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype.

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Title:	A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype.
Author(s):	Beltran Valero de Bernabe, D.; Bokhoven, J.H.L.M. van ; Beusekom, E. van ; Akker, W. van den; Kant, S.; Dobyns, W.B.; Cormand, B.; Currier, S.; Hamel, B.C.J. ; Talim, B.; Topaloglu, H.; Brunner, H.G.
Publication year:	2003
Source:	Journal of Medical Genetics, vol. 40, iss. 11, (2003), pp. 845-848
ISSN:	0022-2593
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : https://hdl.handle.net/2066/166946
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Subject:	UMCN 5.1: Genetic defects of metabolism
Organization:	Human Genetics
Journal title:	Journal of Medical Genetics
Volume:	vol. 40
Issue:	iss. 11
Page start:	p. 845
Page end:	p. 848