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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 Više autora...

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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, br. 1, 2015, str. 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, br. 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), str. 163-169. doi: 10.1016/j.ajhg.2015.05.009

Haack TB, Staufner C, Köpke MG, Straub BK, Kölker S, Thiel C, i sur.. Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy. American Journal of Human Genetics [Internet]. 02.07.2015. [pristupljeno 08.11.2024.];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, br. 1, str. 163-169, Srpanj 2015. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:263003. [Citirano: 08.11.2024.]

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Naslov (engleski)Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy
AutorTobias B. Haack
AutorChristian Staufner
AutorMarlies G. Köpke
AutorBeate K. Straub
AutorStefan Kölker
AutorChristian Thiel
AutorPeter Freisinger
AutorIvo Barić
AutorPatrick J. McKiernan
AutorNicola Dikow
AutorInga Harting
AutorFlemming Beisse
AutorPeter Burgard
AutorUrania Kotzaeridou
AutorJoachim Kühr
AutorUrban Himbert
AutorRobert W. Taylor
AutorFelix Distelmaier
AutorJerry Vockley
AutorLina Ghaloul-Gonzalez
AutorJohannes Zschocke
AutorLaura S. Kremer
AutorElisabeth Graf
AutorThomas Schwarzmayr
AutorDaniel M. Bader
AutorJulien Gagneur
AutorThomas Wieland
AutorCaterina Terrile
AutorTim M. Strom
AutorThomas Meitinger
AutorGeorg F. Hoffmann
AutorHolger Prokisch
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Sažetak (engleski)
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.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaAmerican Journal of Human Genetics
Brojčani podacivol. 97, br. 1, str. 163-169
p-ISSN0002-9297
DOIhttps://doi.org/10.1016/j.ajhg.2015.05.009
URN:NBNurn:nbn:hr:105:263003
Datum objave publikacije2015-07-02
URL dokumentahttps://doi.org/10.1016/j.ajhg.2015.05.009
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
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Datum i vrijeme pohrane2024-03-28 08:11:20