Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters
Journal article published in 2017 by
Gudny A. Arnadottir,
Brynjar O. Jensson,
Sigurdur E. Marelsson,
Gerald Sulem,
Asmundur Oddsson,
Ragnar P. Kristjansson,
Stefania Benonisdottir,
Sigurjon A. Gudjonsson 
,
Gisli Masson,
Gudmundur A. Thorisson,
Jona Saemundsdottir,
Olafur T.-H. Magnusson,
Adalbjorg Jonasdottir,
Aslaug Jonasdottir,
Asgeir Sigurdsson
and other authors.
,
Gisli Masson,
Gudmundur A. Thorisson,
Jona Saemundsdottir,
Olafur T.-H. Magnusson,
Adalbjorg Jonasdottir,
Aslaug Jonasdottir,
Asgeir Sigurdsson
and other authors.
This paper is made freely available by the publisher.
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