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

Puusepp, Sanna; Kovacs-Nagy, Reka; Alhaddad, Bader; Braunisch, Matthias; Hoffmann, Georg F.; Kotzaeridou, Urania; Lichvarova, Lucia; Liiv, Mailis; Makowski, Christine; Mandel, Merle; Meitinger, Thomas; Pajusalu, Sander; Rodenburg, Richard J.; Safiulina, Dzhamilja; Strom, Tim M.; Talvik, Inga; Vaarmann, Annika; Wilson, Callum; Kaasik, Allen; Haack, Tobias B.; Ounap, Katrin

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

Author:

Puusepp, Sanna; Kovacs-Nagy, Reka; Alhaddad, Bader; Braunisch, Matthias; Hoffmann, Georg F.; Kotzaeridou, Urania; Lichvarova, Lucia; Liiv, Mailis; Makowski, Christine; Mandel, Merle; Meitinger, Thomas; Pajusalu, Sander; Rodenburg, Richard J.; Safiulina, Dzhamilja; Strom, Tim M.; Talvik, Inga; Vaarmann, Annika; Wilson, Callum; Kaasik, Allen; Haack, Tobias B.; Ounap, Katrin

Tübinger Autor(en):

Haack, Tobias

Published in:

European Journal of Human Genetics (2018), Bd. 26, H. 3, S. 407-419

Verlagsangabe:

Nature Publishing Group

Language:

English

Full text:

http://dx.doi.org/10.1038/s41431-017-0001-6

ISSN:

1476-5438