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Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency

Crossref DOI link: https://doi.org/10.1038/s41431-017-0001-6

Published Online: 2018-01-17

Published Print: 2018-03

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

Authors

Puusepp, Sanna

Kovacs-Nagy, Reka

Alhaddad, Bader http://orcid.org/0000-0003-4542-5267
Braunisch, Matthias

Hoffmann, Georg F.

Kotzaeridou, Urania

Lichvarova, Lucia

Liiv, Mailis

Makowski, Christine

Mandel, Merle

Meitinger, Thomas

Pajusalu, Sander http://orcid.org/0000-0002-5435-0781
Rodenburg, Richard J. http://orcid.org/0000-0001-5227-3527
Safiulina, Dzhamilja

Strom, Tim M.

Talvik, Inga

Vaarmann, Annika

Wilson, Callum

Kaasik, Allen

Haack, Tobias B.

Õunap, Katrin
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Article History

Received: 10 February 2017

Revised: 17 July 2017

Accepted: 23 August 2017

First Online: 17 January 2018

Compliance with ethical standards

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: The authors declare no conflicts of interest.