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- Title:
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency
- Author(s):
- Ahting, Uwe; Mayr, Johannes A.; Vanlander, Arnaud V.; Hardy, Steven A.; Santra, Saikat; Makowski, Christine; Alston, Charlotte L.; Zimmermann, Franz A.; Abela, Lucia; Plecko, Barbara; Rohrbach, Marianne; Spranger, Stephanie; Seneca, Sara; Rolinski, Boris; Hagendorff, Angela; Hempel, Maja; Sperl, Wolfgang; Meitinger, Thomas; Smet, Joél; Taylor, Robert W.; Van Coster, Rudy; Freisinger, Peter; Prokisch, Holger; Haack, Tobias B.
- Journal title:
- Front. Genet.
- Year:
- 2015
- Journal volume:
- 06
- Fulltext / DOI:
- doi:10.3389/fgene.2015.00123
- Publisher:
- Frontiers Media SA
- Date of publication:
- 13.04.2015
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