Mutations in BICD2, which encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

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Title:	Mutations in BICD2, which encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy
Author(s):	Neveling, K. ; Martinez-Carrera, L.; Hölker, I.; Heister, A. ; Verrips, A. ; Hosseini-Barkooie, S.M.; Gilissen, C.F.H.A. ; Vermeer, S. ; Pennings, M.C.P.; Meijer, R.; Riele, M.G.E. te ; Frijns, C.J.; Suchowersky, O.; MacLaren, L.; Rudnik-Schöneborn, S.; Sinke, R.J. ; Zerres, K.; Lowry, R.B.; Lemmink, H.H. ; Garbes, L.; Veltman, J.A. ; Schelhaas, H.J. ; Scheffer, H. ; Wirth, B.
Publication year:	2013
Source:	American Journal of Human Genetics, vol. 92, (2013), pp. 946-954
ISSN:	0002-9297
DOI:	https://doi.org/10.1016/j.ajhg.2013.04.011
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : http://hdl.handle.net/2066/116576
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Subject:	DCN MP - Plasticity and memory IGMD 3: Genomic disorders and inherited multi-system disorders IGMD 3: Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory NCMLS 6: Genetics and epigenetic pathways of disease IGMD 3: Genomic disorders and inherited multi-system disorders
Organization:	Human Genetics Neurology Gastroenterology Paediatrics
Journal title:	American Journal of Human Genetics
Volume:	vol. 92
Page start:	p. 946
Page end:	p. 954

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