Biallelic variants in UBA5 link dysfunctional UFM1 ubiquitin-like modifier pathway to severe infantile-onset encephalopathy

Approved

Classifications

MinEdu publication type
A1 Journal article (peer-reviewed)
Name
A1
Category
Artikkeli
Refereed
Kyllä
Sub category
Tieteellinen aikakauslehti
Type
Alkuperäisartikkeli

Authors of the publication

Number of authors
28
Authors
Muona, Mikko; Ishimura, Ryosuke; Laari, Anni; Ichimura, Yoshinobu; Linnankivi, Tarja; Keski-Filppula, Riikka; Herva, Riitta; Rantala, Heikki; Paetau, Anders; Pöyhönen, Minna; Obata, Miki; Uemura, Takefumi; Karhu, Thomas; Bizen, Norihisa; Takebayashi, Hirohide; McKee, Shane; Parker, Michael J.; Akawi, Nadia; McRae, Jeremy; Hurles, Matthew E.

Publication channel information

Title of journal/series
American journal of human genetics
ISSN (print)
0002-9297
ISSN (electronic)
1537-6605
ISSN (linking)
0002-9297
Publication forum ID
50892
Publication forum level
3
Country of publication
United States
Internationality
Yes

Detailed publication information

Publication year
2016
Reporting year
2016
Journal/series volume number
99
Journal/series issue number
3
Page numbers
683-694
DOI
10.1016/j.ajhg.2016.06.020
Language of publication
English

Co-publication information

International co-publication
Yes
Co-publication with a company
No

Availability

Classification and additional information

MinEdu field of science classification
3111 Biomedicine

Source database ID

WoS ID
WOS:000383114800013
Scopus ID
2-s2.0-84996848384