Genetic Testing Requires NGS and Sanger Methodologies
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
| Veröffentlicht in: | Pediatric neurology briefs. - 1997. - 30(2016), 9 vom: 20. Sept., Seite 36 |
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| Format: | Online-Aufsatz |
| Sprache: | English |
| Veröffentlicht: |
2016
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| Zugriff auf das übergeordnete Werk: | Pediatric neurology briefs |
| Schlagworte: | Comment Journal Article NGS SCN1A Sanger |
| Zusammenfassung: | 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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| Beschreibung: | Date Completed 21.09.2016 Date Revised 01.10.2020 published: Print CommentOn: Mol Genet Genomic Med. 2016 Apr 14;4(4):457-64. doi: 10.1002/mgg3.217. - PMID 27465585 Citation Status PubMed-not-MEDLINE |
| ISSN: | 1043-3155 |
| DOI: | 10.15844/pedneurbriefs-30-9-1 |