Genetic Testing Requires NGS and Sanger Methodologies

نویسندگان

  • Lawrence J. Jennings
  • Dawn Kirschmann
چکیده

Investigators from the EuroEPINOMICS rare epilepsy syndromes Dravet working group performed whole-exome sequencing on 31 trios that had been reported negative for SCN1A mutations by Sanger sequencing.

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عنوان ژورنال:

دوره 30  شماره 

صفحات  -

تاریخ انتشار 2016