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Original article
Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband
  1. Correspondence to Dr David Watkins, Department of Human Genetics, Department of Medical Genetics, McGill University Health Centre, Montreal General Hospital, 1650 Cedar Avenue, Room L3-319, Montreal, QC H3G 1A4, Canada; david.watkins{at}mcgill.ca
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Citation

Watkins D, Schwartzentruber JA, Ganesh J, et al
Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband

Publication history

  • Received June 24, 2011
  • Accepted July 6, 2011
  • First published August 3, 2011.

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