Publication
Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores
Nyamkhishig Sambuughin, Kyle S. Yau, Montse Olivé, Rachael M. Duff, Munkhuu Bayarsaikhan, Shajia Lu, Laura Gonzalez-Mera, Padma Sivadorai, Kristen J. Nowak, Gianina Ravenscroft, Frank L. Mastaglia, Kathryn N. North, Biljana Ilkovski, Hannie Kremer, Martin Lammens, Baziel G.M. van Engelen, Vicki Fabian, Phillipa Lamont, Mark R. Davis, Nigel G. Laing, Lev G. Goldfarb
The American Journal of Human Genetics, December 2010, Elsevier
DOI: 10.1016/j.ajhg.2010.10.020