Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome. (April 2018)

Record Type:: Journal Article
Title:: Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome. (April 2018)
Main Title:: Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome
Authors:: Alrohaif, Hadil
Töpf, Ana
Evangelista, Teresinha
Lek, Monkol
McArthur, Daniel
Lochmüller, Hanns
Abstract:
Is Part Of:: Neurology. Volume 4:Number 2(2018)
Journal:: Neurology
Issue:: Volume 4:Number 2(2018)
Issue Display:: Volume 4, Issue 2 (2018)
Year:: 2018
Volume:: 4
Issue:: 2
Issue Sort Value:: 2018-0004-0002-0000
Page Start:
Page End:
Publication Date:: 2018-04
Subjects:: Neurogenetics -- Periodicals
616.80442
Journal URLs:: http://ng.neurology.org/ ↗
http://journals.lww.com/pages/default.aspx ↗
DOI:: 10.1212/NXG.0000000000000226 ↗
Languages:: English
ISSNs:: 2376-7839
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:: 6413.xml