Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly
Year of publication
2015
Authors
Hardies, Katia; May, Patrick; Djemie, Tania; Tarta-Arsene, Oana; Deconinck, Tine; Craiu, Dana; Helbig, Ingo; Suls, Arvid; Balling, Rudy; Weckhuysen, Sarah; De Jonghe, Peter; Hirst, Jennifer; , ; Lehesjoki, Anna-Elina
Organizations and authors
University of Helsinki
Lehesjoki Anna-Elina
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
Parent publication name
Volume
24
Issue
8
Pages
2218-2227
ISSN
Publication forum
Publication forum level
2
Open access
Open access in the publisher’s service
No information
Self-archived
Unknown
Other information
Fields of science
Genetics, developmental biology, physiology
Publication country
United Kingdom
Internationality of the publisher
International
Language
English
International co-publication
Yes
Co-publication with a company
Unknown
DOI
10.1093/hmg/ddu740
The publication is included in the Ministry of Education and Culture’s Publication data collection
Yes