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

Research output: Contribution to journalArticlepeer-review

128 Citations (Scopus)
Original languageEnglish
Pages (from-to)842-847
JournalAmerican Journal of Human Genetics
Volume87
Issue number6
DOIs
Publication statusPublished - 2010

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