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

Journal article

Peer reviewed

N. Sambuughin, K.S. Yau, M. Olivé, R.M. Duff, M. Bayarsaikhan, S. Lu, L. Gonzalez-Mera, P. Sivadorai, K.J. Nowak, G. Ravenscroft, …

The American Journal of Human Genetics, Vol.88(1)

2011

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Title: Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores
Authors/Creators: N. Sambuughin (Author/Creator)
K.S. Yau (Author/Creator)
M. Olivé (Author/Creator)
R.M. Duff (Author/Creator)
M. Bayarsaikhan (Author/Creator)
S. Lu (Author/Creator)
L. Gonzalez-Mera (Author/Creator)
P. Sivadorai (Author/Creator)
K.J. Nowak (Author/Creator)
G. Ravenscroft (Author/Creator)
F.L. Mastaglia (Author/Creator)
K.N. North (Author/Creator)
B. Ilkovski (Author/Creator)
H. Kremer (Author/Creator)
M. Lammens (Author/Creator)
B.G.M. van Engelen (Author/Creator)
V. Fabian (Author/Creator)
P. Lamont (Author/Creator)
M.R. Davis (Author/Creator)
N.G. Laing (Author/Creator)
L.G. Goldfarb (Author/Creator)
Publication Details: The American Journal of Human Genetics, Vol.88(1)
Publisher: Elsevier Inc.
Identifiers: 991005542633007891
Copyright: © 2011 The American Society of Human Genetics.
Murdoch Affiliation: Murdoch University
Language: English
Resource Type: Journal article

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.96 Cell Biology; 1.96.492 Myosin
Web Of Science research areas: Genetics & Heredity
ESI research areas: Molecular Biology & Genetics