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Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction

Year of publication

2021

Authors

Kaustio, Meri; Nayebzadeh, Naemeh; Hinttala, Reetta; Tapiainen, Terhi; Åström, Pirjo; Mamia, Katariina; Pernaa, Nora; Lehtonen, Johanna; Glumoff, Virpi; Rahikkala, Elisa; Olsén, Päivi; Hassinen, Antti; Polso, Minttu; Sukaiti, Nashat AL.; Alshekaili, Jalila; Al Kindi, Mahmood; Al Hashmi, Nadia; Almusa, Henrikki; Bulanova, Daria; Haapaniemi, Emma et al. [incl. Renko, Marjo; Löppönen, Tuija]
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Organizations and authors

University of Eastern Finland

Renko Marjo

Löppönen Tuija

University of Oulu

Hinttala Reetta

Rahikkala Elisa Orcid -palvelun logo

Rantala Heikki

Uusimaa Johanna

Renko Marjo Helena

Honkila Minna

Nayebzadeh Naemeh

Vieira Päivi Maria

Tapiainen Terhi Orcid -palvelun logo

Suo-Palosaari Maria Helena

Pernaa Nora

Åström Pirjo

Hautala Timo

Glumoff Virpi Orcid -palvelun logo

University of Helsinki

Hassinen Antti

Bulanova Daria

Haapaniemi Emma

Almusa Henrikki

Saarela Janna

Lehtonen Johanna

Kaustio Meri

Polso Minttu

Chen Pu

Pietiäinen Vilja

Helsinki University Hospital Catchment Area

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

Scientific

Peer-reviewed

Peer-Reviewed

MINEDU's publication type classification code

A1 Journal article (refereed), original research

Publication channel information

Volume

148

Issue

2

Pages

599-611

​Publication forum

59524

​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