prikaz prve stranice dokumenta Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy
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Scientific paper - Original scientific paper
Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy
American Journal of Human Genetics, 97 (2015), 1; 163-169. https://doi.org/10.1016/j.ajhg.2015.05.009
Haack, Tobias B.; Staufner, Christian; Köpke, Marlies G.; Straub, Beate K.; Kölker, Stefan; Thiel, Christian; Freisinger, Peter; Barić, Ivo; McKiernan, Patrick J.; Dikow, Nicola; Harting, Inga; Beisse, Flemming; Burgard, Peter; Kotzaeridou, Urania; Kühr, Joachim; Himbert, Urban; Taylor, Robert W.; Distelmaier, Felix; Vockley, Jerry; Ghaloul-Gonzalez, Lina; Zschocke, Johannes; Kremer, Laura S.; Graf, Elisabeth; Schwarzmayr, Thomas; Bader, Daniel M.; Gagneur, Julien; Wieland, Thomas; Terrile, Caterina; Strom, Tim M.; Meitinger, Thomas; Hoffmann, Georg F.; Prokisch, Holger More authors...

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Haack, T. B., Staufner, C., Köpke, M. G., Straub, B. K., Kölker, S., Thiel, C. ... Prokisch, H. (2015). Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy. American Journal of Human Genetics, 97. (1), 163-169. doi: 10.1016/j.ajhg.2015.05.009

Haack, Tobias B., et al. "Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy." American Journal of Human Genetics, vol. 97, no. 1, 2015, pp. 163-169. https://doi.org/10.1016/j.ajhg.2015.05.009

Haack, Tobias B., Christian Staufner, Marlies G. Köpke, Beate K. Straub, Stefan Kölker, Christian Thiel, Peter Freisinger, et al. "Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy." American Journal of Human Genetics 97, no. 1 (2015): 163-169. https://doi.org/10.1016/j.ajhg.2015.05.009

Haack, T. B., et al. (2015) 'Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy', American Journal of Human Genetics, 97(1), pp. 163-169. doi: 10.1016/j.ajhg.2015.05.009

Haack TB, Staufner C, Köpke MG, Straub BK, Kölker S, Thiel C, and sur.. Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy. American Journal of Human Genetics [Internet]. 2015 July 02 [cited 2024 July 25];97(1):163-169. doi: 10.1016/j.ajhg.2015.05.009

T. B. Haack, et al., "Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy", American Journal of Human Genetics, vol. 97, no. 1, pp. 163-169, July 2015. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:263003. [Accessed: 25 July 2024]

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Metadata
Title (english)Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy
AuthorTobias B. Haack
AuthorChristian Staufner
AuthorMarlies G. Köpke
AuthorBeate K. Straub
AuthorStefan Kölker
AuthorChristian Thiel
AuthorPeter Freisinger
AuthorIvo Barić
AuthorPatrick J. McKiernan
AuthorNicola Dikow
AuthorInga Harting
AuthorFlemming Beisse
AuthorPeter Burgard
AuthorUrania Kotzaeridou
AuthorJoachim Kühr
AuthorUrban Himbert
AuthorRobert W. Taylor
AuthorFelix Distelmaier
AuthorJerry Vockley
AuthorLina Ghaloul-Gonzalez
AuthorJohannes Zschocke
AuthorLaura S. Kremer
AuthorElisabeth Graf
AuthorThomas Schwarzmayr
AuthorDaniel M. Bader
AuthorJulien Gagneur
AuthorThomas Wieland
AuthorCaterina Terrile
AuthorTim M. Strom
AuthorThomas Meitinger
AuthorGeorg F. Hoffmann
AuthorHolger Prokisch
Author's institutionUniversity of Zagreb
School of Medicine
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Abstract (english)
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.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleAmerican Journal of Human Genetics
Numberingvol. 97, no. 1, pp. 163-169
p-ISSN0002-9297
DOIhttps://doi.org/10.1016/j.ajhg.2015.05.009
URN:NBNurn:nbn:hr:105:263003
Publication2015-07-02
Document URLhttps://doi.org/10.1016/j.ajhg.2015.05.009
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2024-03-28 08:11:20