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Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters

Crossref DOI link: https://doi.org/10.1186/s12881-017-0466-8

Published Online: 2017-10-02

Published Print: 2017-12

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

Authors

Arnadottir, Gudny A.

Jensson, Brynjar O.

Marelsson, Sigurdur E.

Sulem, Gerald

Oddsson, Asmundur

Kristjansson, Ragnar P.

Benonisdottir, Stefania

Gudjonsson, Sigurjon A.

Masson, Gisli

Thorisson, Gudmundur A.

Saemundsdottir, Jona

Magnusson, Olafur Th.

Jonasdottir, Adalbjorg

Jonasdottir, Aslaug

Sigurdsson, Asgeir

Gudbjartsson, Daniel F.

Thorsteinsdottir, Unnur

Arngrimsson, Reynir

Sulem, Patrick https://orcid.org/0000-0001-7123-6123
Stefansson, Kari