Ontology highlight
ABSTRACT:
SUBMITTER: Haack TB
PROVIDER: S-EPMC4572578 | biostudies-literature | 2015 Jul
REPOSITORIES: biostudies-literature
American journal of human genetics 20150611 1
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 ...[more]