Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy
Year of publication
2010
Authors
O'Toole JF, Liu Y, Davis EE, Westlake CJ, Attanasio M, Otto EA, Seelow D, Nurnberg G, Becker C, Nuutinen M, Kärppä M, Ignatius J, Uusimaa J, Pakanen S, Jaakkola E, van den Heuvel LP, Fehrenbach H, Wiggins R, Goyal M, Zhou W, Wolf MT, Wise E, Helou J, Allen SJ, Murga-Zamalloa CA, Ashraf S, Chaki M, Heeringa S, Chernin G, Hoskins BE, Chaib H, Gleeson J, Kusakabe T, Suzuki T, Isaac RE, Quarmby LM, Tennant B, Fujioka H, Tuominen H, Hassinen I, Lohi H, van Houten JL, Rotig A, Sayer JA, Rolinski B, Freisinger P, Madhavan SM, Herzer M, Madignier F, Prokisch H, Nurnberg P et al., Tuominen H, Hassinen
Show moreOrganizations and authors
University of Oulu
Hassinen Ilmo Ensio
Uusimaa Johanna
Kärppä Mikko
Nuutinen Eero Matti
Jaakkola Elisa
Ignatius Jaakko
Pakanen Salla Mirjami
Tuominen Hannu
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
Pages
791-802
ISSN
Publication forum
Publication forum level
3
Open access
Open access in the publisher’s service
Yes
Open access of publication channel
Fully open publication channel
Self-archived
No
Other information
Publication country
United States
Internationality of the publisher
International
Language
English
International co-publication
Yes
Co-publication with a company
Unknown
DOI
10.1172/JCI40076
The publication is included in the Ministry of Education and Culture’s Publication data collection
Yes