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

Sambuughin, N., Yau, K.S., Olivé, M., Duff, R.M., Bayarsaikhan, M., Lu, S., Gonzalez-Mera, L., Sivadorai, P., Nowak, K.J., Ravenscroft, G., Mastaglia, F.L., North, K.N., Ilkovski, B., Kremer, H., Lammens, M., van Engelen, B.G.M., Fabian, V., Lamont, P., Davis, M.R., Laing, N.G. and Goldfarb, L.G. (2011) Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. The American Journal of Human Genetics, 88 (1). p. 122.

Link to Published Version: http://dx.doi.org/10.1016/j.ajhg.2010.12.013
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Abstract

Erratum

Publication Type: Journal Article
Publisher: Elsevier Inc.
Copyright: © 2011 The American Society of Human Genetics.
URI: http://researchrepository.murdoch.edu.au/id/eprint/25484
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