Diagnostic analysis of th Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations

Open Access
Authors
  • F. Petrij
  • H.G. Dauwerse
  • R.I. Blough
  • R.H. Giles
  • J.J. van der Smagt
  • R. Wallerstein
  • P.D. Maaswinkel-Mooy
  • C.D. van Karnebeek
  • G-J.B. van Ommen
  • A. van Haeringen
  • J.H. Rubinstein
  • H.M. Saal
  • R.C.M. Hennekam
  • D.J.M. Peters
  • M.H. Breuning
Publication date 2000
Journal Journal of Medical Genetics
Volume | Issue number 37
Pages (from-to) 168-176
Organisations
  • Faculty of Medicine (AMC-UvA)
Document type Article
Note Leiden
Language English
Published at https://doi.org/10.1136/jmg.37.3.168
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87382y.pdf (Final published version)
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