Crossmark

tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy

Crossref DOI link: https://doi.org/10.1038/ejhg.2017.30

Published Online: 2017-03-08

Published Print: 2017-05

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Edvardson, Simon

Prunetti, Laurence

Arraf, Aiman

Haas, Drago

Bacusmo, Jo Marie

Hu, Jennifer F

Ta-Shma, Asas

Dedon, Peter C

de Crécy-Lagard, Valérie

Elpeleg, Orly
License Information

Text and Data Mining valid from 2017-03-08
More Information

Article History

Received: 24 November 2016

Revised: 1 February 2017

Accepted: 7 February 2017

First Online: 8 March 2017

Competing interests

: The authors declare no conflict of interest.