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Mutation report
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy

Authors

  1. Dr V Tiranti, Unit of Molecular Neurogenetics, IRCCS Foundation Neurological Institute C. Besta, Via Temolo, 4, 20126 Milan, Italy; tiranti{at}istituto-besta.it
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Citation

Mineri R, Rimoldi M, Burlina AB, et al
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy
Journal of Medical Genetics 2008;45:473-478.

Publication history

  • Received February 27, 2008
  • Revised April 2, 2008
  • Accepted April 3, 2008
  • First published July 1, 2008.
Online issue publication 
April 27, 2016

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2008 BMJ Publishing Group