Dominant  mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.

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Title:	Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.
Author(s):	Sambuughin, N.; Yau, K.S.; Duff, R.M.; Bayarsaikhan, M.; Lu, S.J.; Gonzalez-Mera, L.; Sivadorai, P.; Nowak, K.J.; Ravenscroft, G.; Mastaglia, F.L.; North, K.N.; Ilkovski, B.; Kremer, H. ; Lammens, M.M. ; Engelen, B.G.M. van ; Fabian, V.; Lamont, P.; Davis, M.R.; Laing, N.G.; Goldfarb, L.G.
Publication year:	2011
Source:	American Journal of Human Genetics, vol. 87, (2011), pp. 842
ISSN:	0002-9297
DOI:	https://doi.org/10.1016/j.ajhg.2010.10.020
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : https://hdl.handle.net/2066/97835
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Subject:	DCN 2: Functional Neurogenomics DCN 2: Functional Neurogenomics IGMD 9: Renal disorder DCN 2: Functional Neurogenomics NCEBP 10: Human Movement & Fatigue NCMLS 6: Genetics and epigenetic pathways of disease DCN 2: Functional Neurogenomics
Organization:	Otorhinolaryngology Pathology Neurology
Journal title:	American Journal of Human Genetics
Volume:	vol. 87
Page start:	p. 842
Page end:	p. 842