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Article

Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study.

BMC gastroenterology - 19 Jun 2017

Li Jia-Qi, Qiu Yi-Ling, Gong Jing-Yu, Dou Li-Min, Lu Yi, Knisely A S, Zhang Mei-Hong, Luan Wei-Sha, Wang Jian-She

Abstract excerpt

BACKGROUND: Underlying causes in Chinese children with recurrent acute liver failure (RALF), including liver crises less than full acute liver failure, are incompletely understood. We sought to address this by searching for genes mutated in such children. METHODS: Five unrelated Chinese boys presenting between 2012 and 2015 with RALF of unexplained etiology were studied. Results of whole exome sequencing were...

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Identifiers

PMID: 28629372
DOI: 10.1186/s12876-017-0636-3
PMCID: PMC5477288

Genes

NBAS

Variants

Provenance

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