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

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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
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Artikel
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