No abstract is available for this paper.
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.
E. Colin,Jens Daniel,A. Ziegler,J. Wakim,Aurora Scrivo,T. Haack,S. Khiati,Anne-Sophie Denommé,P. Amati‐Bonneau,M. Charif,V. Procaccio,P. Reynier,K. Aleck,L. Botto,Claudia Lena Herper,C. Kaiser,R. Nabbout,S. N’guyen,José Antonio Mora-Lorca,B. Assmann,S. Christ,T. Meitinger,T. Strom,H. Prokisch,A. Miranda‐Vizuete,G. Hoffmann,G. Lenaers,P. Bomont,E. Liebau,D. Bonneau
Published 2016 in American Journal of Human Genetics
ABSTRACT
PUBLICATION RECORD
- Publication year
2016
- Venue
American Journal of Human Genetics
- Publication date
2016-09-01
- Fields of study
Biology, Medicine
- Identifiers
- External record
- Source metadata
Semantic Scholar, PubMed
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