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 Online resource | |
| Titel: | Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy |
| Mitwirkende: | Haack, Tobias  |
| Kotzaeridou, Urania | |
| Hoffmann, Georg F. | |
| Staufner, Christian | |
| Straub, Beate Katharina | |
| Kölker, Stefan | |
| Thiel, Christian | |
| Dikow, Nicola | |
| Harting, Inga | |
| Beisse, Flemming | |
| Burgard, Peter | |
| Verf.angabe: | Tobias B. Haack, Christian Staufner, Marlies G. Köpke, Beate K. Straub, Stefan Kölker, Christian Thiel, Peter Freisinger, Ivo Baric, Patrick J. McKiernan, Nicola Dikow, Inga Harting, Flemming Beisse, Peter Burgard, Urania Kotzaeridou, Joachim Kühr, Urban Himbert, Robert W. Taylor, Felix Distelmaier, Jerry Vockley, Lina Ghaloul-Gonzalez, Johannes Zschocke, Laura S. Kremer, Elisabeth Graf, Thomas Schwarzmayr, Daniel M. Bader, Julien Gagneur, Thomas Wieland, Caterina Terrile, Tim M. Strom, Thomas Meitinger, Georg F. Hoffmann, and Holger Prokisch |
| E-Jahr: | 2015 |
| Jahr: | 11 June 2015 |
| Umfang: | 7 S. |
| Fussnoten: | Gesehen am 17.02.2021 |
| Titel Quelle: | In: The American journal of human genetics |
| Ort Quelle: | New York, NY [u.a.] : Cell Press, 1949 |
| Jahr Quelle: | 2015 |
| Band/Heft Quelle: | 97(2015), 1, Seite 163-169 |
| ISSN Quelle: | 1537-6605 |
| Abstract: | Acute liver failure (ALF) in infancy and childhood is a life-threatening emergency. Few conditions are known to cause recurrent acute liver failure (RALF), and in about 50% of cases, the underlying molecular cause remains unresolved. Exome sequencing in five unrelated individuals with fever-dependent RALF revealed biallelic mutations in NBAS. Subsequent Sanger sequencing of NBAS in 15 additional unrelated individuals with RALF or ALF identified compound heterozygous mutations in an additional six individuals from five families. Immunoblot analysis of mutant fibroblasts showed reduced protein levels of NBAS and its proposed interaction partner p31, both involved in retrograde transport between endoplasmic reticulum and Golgi. We recommend NBAS analysis in individuals with acute infantile liver failure, especially if triggered by fever. |
| DOI: | doi:10.1016/j.ajhg.2015.05.009 |
| URL: | Bibliographic entry. University members only receive access to full-texts for open access or licensed publications. Kostenfrei: Volltext: http://dx.doi.org/10.1016/j.ajhg.2015.05.009 |
| DOI: https://doi.org/10.1016/j.ajhg.2015.05.009 | |
| Datenträger: | Online-Ressource |
| Sprache: | eng |
| K10plus-PPN: | 1504856783 |
| Verknüpfungen: | → Journal |
