Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction
Year of publication
Authors
Organizations and authors
Hinttala Reetta
Rantala Heikki
Uusimaa Johanna
Renko Marjo Helena
Honkila Minna
Nayebzadeh Naemeh
Vieira Päivi Maria
Suo-Palosaari Maria Helena
Pernaa Nora
Åström Pirjo
Hautala Timo
Hassinen Antti
Bulanova Daria
Haapaniemi Emma
Almusa Henrikki
Saarela Janna
Lehtonen Johanna
Kaustio Meri
Polso Minttu
Chen Pu
Pietiäinen Vilja
Kokkonen Hannaleena
Hassinen Antti
Bulanova Daria
Haapaniemi Emma
Almusa Henrikki
Saarela Janna
Lehtonen Johanna
Kaustio Meri
Polso Minttu
Chen Pu
Pietiäinen Vilja
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
Parent publication name
Volume
148
Issue
2
Pages
599-611
ISSN
Publication forum
Publication forum level
3
Open access
Open access in the publisher’s service
Yes
Open access of publication channel
Partially open publication channel
Self-archived
Yes
Other information
Fields of science
Biochemistry, cell and molecular biology; Biomedicine; General medicine, internal medicine and other clinical medicine; Gynaecology and paediatrics
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],[object Object],[object Object],[object Object]
Internationality of the publisher
International
Language
English
International co-publication
Yes
Co-publication with a company
No
DOI
10.1016/j.jaci.2020.12.656
The publication is included in the Ministry of Education and Culture’s Publication data collection
Yes