Incidence and molecular mechanism of abberant splicing to a G->C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome

Open Access
Authors
  • H.R. Waterham
  • W. Oostheim
  • G.J. Romeijn
  • R.J.A. Wanders
  • R.C.M. Hennekam
Publication date 2000
Journal Journal of Medical Genetics
Volume | Issue number 37
Pages (from-to) 389-392
Organisations
  • Faculty of Medicine (AMC-UvA)
Document type Article
Note research letter. ©2000 BMJ Publishing Group
Published at https://doi.org/10.1136/jmg.37.5.389
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