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Titel:

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.

Dokumenttyp:
Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
Haack, Tobias B; Staufner, Christian; Köpke, Marlies G; Straub, Beate K; Kölker, Stefan; Thiel, Christian; Freisinger, Peter; Baric, 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; S...     »
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 si...     »
Zeitschriftentitel:
Am J Hum Genet
Jahr:
2015
Band / Volume:
97
Heft / Issue:
1
Seitenangaben Beitrag:
163-9
Sprache:
eng
Volltext / DOI:
doi:10.1016/j.ajhg.2015.05.009
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/26073778
Print-ISSN:
0002-9297
TUM Einrichtung:
Institut für Humangenetik
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