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

Document Details

Document Type
Pub Defense Publication
Publication Date
Dec 01, 2010
Source ID
10.1016/j.ajhg.2010.10.020

Entities

People

  • Baziel G.m. Van Engelen
  • Biljana Ilkovski
  • Frank L. Mastaglia
  • Gianina Ravenscroft
  • Hannie Kremer
  • Kathryn North
  • Kristen J. Nowak
  • Kyle S. Yau
  • Laura Gonzalez-mera
  • Lev G. Goldfarb
  • Mark R. Davis
  • Martin Lammens
  • Montse Olivé
  • Munkhuu Bayarsaikhan
  • Nigel G. Laing
  • Nyamkhishig Sambuughin
  • Padma Sivadorai
  • Phillipa Lamont
  • Rachael M. Duff
  • Shajia Lu
  • Vicki Fabian

Organizations

  • Carlos III Health Institute
  • Consejería de Educación e Investigación
  • National Health and Medical Research Council
  • National Institute of Neurological Disorders and Stroke
  • National Institutes of Health
  • Uniformed Services University of the Health Sciences