Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness
Year of publication
2018
Authors
Johnson, Katherine; Bertoli, Marta; Phillips, Lauren; Topf, Ana; Van den Bergh, Peter; Vissing, John; Witting, Nanna; Nafissi, Shahriar; Jamal-Omidi, Shirin; Lusakowska, Anna; Kostera-Pruszczyk, Anna; Potulska-Chromik, Anna; Deconinck, Nicolas; Wallgren-Pettersson, Carina; Strang-Karlsson, Sonja; Colomer, Jaume; Claeys, Kristl G.; De Ridder, Willem; Baets, Jonathan; von der Hagen, Maja
Show moreOrganizations and authors
Publication type
Publication format
Article
Parent publication type
Journal
Article type
Original article
Audience
ScientificPeer-reviewed
Peer-ReviewedMINEDU's publication type classification code
A1 Journal article (refereed), original researchPublication channel information
Journal/Series
Parent publication name
Volume
8
Article number
23
ISSN
Publication forum
Publication forum level
1
Open access
Open access in the publisher’s service
Yes
Open access of publication channel
Fully open publication channel
Self-archived
Yes
License of the self-archived publication
CC BY
Other information
Fields of science
Biochemistry, cell and molecular biology; Biomedicine
Keywords
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Publication country
United States
Internationality of the publisher
International
Language
English
International co-publication
Yes
Co-publication with a company
No
DOI
10.1186/s13395-018-0170-1
The publication is included in the Ministry of Education and Culture’s Publication data collection
Yes