A novel mutation (R218Q) at the boundary between the N-terminal and the first transmembrane domain of the glycine receptor in a case of sporadic hyperekplexia. Issue 5 (1st May 2003)

Record Type:: Journal Article
Title:: A novel mutation (R218Q) at the boundary between the N-terminal and the first transmembrane domain of the glycine receptor in a case of sporadic hyperekplexia. Issue 5 (1st May 2003)
Main Title:: A novel mutation (R218Q) at the boundary between the N-terminal and the first transmembrane domain of the glycine receptor in a case of sporadic hyperekplexia
Authors:: Miraglia Del Giudice, E
Coppola, G
Bellini, G
Ledaal, P
Hertz, J M
Pascotto, A
Abstract:
Is Part Of:: Journal of medical genetics. Volume 40:Issue 5(2003)
Journal:: Journal of medical genetics
Issue:: Volume 40:Issue 5(2003)
Issue Display:: Volume 40, Issue 5 (2003)
Year:: 2003
Volume:: 40
Issue:: 5
Issue Sort Value:: 2003-0040-0005-0000
Page Start:: e71
Page End:: e71
Publication Date:: 2003-05-01
Subjects:: GLRA1 -- N-terminal domain -- startle disease -- glycine receptor
Medical genetics -- Periodicals
616.042
Journal URLs:: http://jmg.bmjjournals.com/ ↗
http://www.bmj.com/archive ↗
DOI:: 10.1136/jmg.40.5.e71 ↗
Languages:: English
ISSNs:: 1468-6244
Deposit Type:: Legaldeposit
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗
Physical Locations:: British Library DSC - BLDSS-3PM
British Library HMNTS - ELD Digital store
Ingest File:: 18294.xml