Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores

N. Sambuughin; K.S. Yau; M. Olive; Rachael Duff; M. Bayarsaikhan; S. Lu; L. Gonzalez-Mera; P. Sivadorai; Kristen Nowak; Gina Ravenscroft; Francis Mastaglia; K.N. North; B. Ilkovski; H. Kremer; M. Lammens; B.G.M. Van Engelen; V. Fabian; P. Lamont; M.R. Davis; Nigel Laing; L.G. Goldfarb

doi:10.1016/j.ajhg.2010.10.020

Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores

N. Sambuughin, K.S. Yau, M. Olive, Rachael Duff, M. Bayarsaikhan, S. Lu, L. Gonzalez-Mera, P. Sivadorai, Kristen Nowak, Gina Ravenscroft, Francis Mastaglia, K.N. North, B. Ilkovski, H. Kremer, M. Lammens, B.G.M. Van Engelen, V. Fabian, P. Lamont, M.R. Davis, Nigel LaingL.G. Goldfarb

UWA Centre for Medical Research (affiliated with the Harry Perkins Institute of Medical Research)

Research output: Contribution to journal › Article › peer-review

140 Citations (Scopus)

Original language	English
Pages (from-to)	842-847
Journal	American Journal of Human Genetics
Volume	87
Issue number	6
DOIs	https://doi.org/10.1016/j.ajhg.2010.10.020
Publication status	Published - 2010

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10.1016/j.ajhg.2010.10.020

Cite this

Sambuughin, N., Yau, K. S., Olive, M., Duff, R., Bayarsaikhan, M., Lu, S., Gonzalez-Mera, L., Sivadorai, P., Nowak, K., Ravenscroft, G., Mastaglia, F., North, K. N., Ilkovski, B., Kremer, H., Lammens, M., Van Engelen, B. G. M., Fabian, V., Lamont, P., Davis, M. R., ... Goldfarb, L. G. (2010). Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores. American Journal of Human Genetics, 87(6), 842-847. https://doi.org/10.1016/j.ajhg.2010.10.020

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title = "Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores",

author = "N. Sambuughin and K.S. Yau and M. Olive and Rachael Duff and M. Bayarsaikhan and S. Lu and L. Gonzalez-Mera and P. Sivadorai and Kristen Nowak and Gina Ravenscroft and Francis Mastaglia and K.N. North and B. Ilkovski and H. Kremer and M. Lammens and {Van Engelen}, B.G.M. and V. Fabian and P. Lamont and M.R. Davis and Nigel Laing and L.G. Goldfarb",

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Sambuughin, N, Yau, KS, Olive, M, Duff, R, Bayarsaikhan, M, Lu, S, Gonzalez-Mera, L, Sivadorai, P, Nowak, K , Ravenscroft, G , Mastaglia, F, North, KN, Ilkovski, B, Kremer, H, Lammens, M, Van Engelen, BGM, Fabian, V, Lamont, P, Davis, MR, Laing, N & Goldfarb, LG 2010, 'Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores', American Journal of Human Genetics, vol. 87, no. 6, pp. 842-847. https://doi.org/10.1016/j.ajhg.2010.10.020

TY - JOUR

T1 - Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores

AU - Sambuughin, N.

AU - Yau, K.S.

AU - Olive, M.

AU - Duff, Rachael

AU - Bayarsaikhan, M.

AU - Lu, S.

AU - Gonzalez-Mera, L.

AU - Sivadorai, P.

AU - Nowak, Kristen

AU - Ravenscroft, Gina

AU - Mastaglia, Francis

AU - North, K.N.

AU - Ilkovski, B.

AU - Kremer, H.

AU - Lammens, M.

AU - Van Engelen, B.G.M.

AU - Fabian, V.

AU - Lamont, P.

AU - Davis, M.R.

AU - Laing, Nigel

AU - Goldfarb, L.G.

PY - 2010

Y1 - 2010

U2 - 10.1016/j.ajhg.2010.10.020

DO - 10.1016/j.ajhg.2010.10.020

M3 - Article

C2 - 21109227

SN - 0002-9297

VL - 87

SP - 842

EP - 847

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 6

ER -