Intronic PRRT2 mutation generates novel splice acceptor site and causes paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) in a three generation family
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1471-2350
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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online resource.
- Bibliographic citation
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Intronic PRRT2 mutation generates novel splice acceptor site and causes paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) in a three generation family ; volume:17 ; number:1 ; day:3 ; month:3 ; year:2016 ; pages:1-3 ; date:12.2016
BMC medical genetics ; 17, Heft 1 (3.3.2016), 1-3, 12.2016
- Creator
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Weber, Axel
- Contributor
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Kreth, Jonas
Müller, Ulrich
SpringerLink (Online service)
- DOI
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10.1186/s12881-016-0281-7
- URN
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urn:nbn:de:1111-2016032630574
- Rights
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Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 10:51 AM CEST
Data provider
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Weber, Axel
- Kreth, Jonas
- Müller, Ulrich
- SpringerLink (Online service)