Intronic PRRT2 mutation generates novel splice acceptor site and causes paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) in a three generation family

Location
Deutsche Nationalbibliothek Frankfurt am Main
ISSN
1471-2350
Extent
Online-Ressource
Language
Englisch
Notes
online resource.

Bibliographic citation
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
Weber, Axel
Contributor
Kreth, Jonas
Müller, Ulrich
SpringerLink (Online service)

DOI
10.1186/s12881-016-0281-7
URN
urn:nbn:de:1111-2016032630574
Rights
Der Zugriff auf das Objekt ist unbeschränkt möglich.
Last update
14.08.2025, 10:51 AM CEST

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Associated

  • Weber, Axel
  • Kreth, Jonas
  • Müller, Ulrich
  • SpringerLink (Online service)

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