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Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia–cystinuria syndrome

Authors

  1. Dr J Creemers, Center for Human Genetics, University of Leuven, Gasthuisberg O/N 6, box 602, Herestraat 49, B-3000 Leuven; john.creemers{at}med.kuleuven.be
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Citation

Chabrol B, Martens K, Meulemans S, et al
Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia–cystinuria syndrome
Journal of Medical Genetics 2008;45:314-318.

Publication history

  • Received October 24, 2007
  • Revised December 6, 2007
  • Accepted December 7, 2007
  • First published January 30, 2008.
Online issue publication 
April 28, 2008

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2008 BMJ Publishing Group