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A novel mutation, c.1342T>C (p.Cys448Arg) identified from an infant with fever-triggered recurrent acute liver failure, affects expressions of NBAS mRNA and protein and induces cellular stress in vitro

2022-07-18

Abstract excerpt

The mutations in neuroblastoma amplified sequence (NBAS) gene correlate with two clinical spectra: short stature with optic nerve atrophy and Pelger-Huët anomaly (SOPH) syndrome and infantile liver failure syndrome 2 (ILFS2). Here, we describe a study of a 26-month-old Chinese girl who was diagnosed with fever-triggered recurrent acute liver failure (ALF). The clinical characteristics were great elevation of liver...

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Literature Corpus work
21e45511-20ce-50b3-81b4-2ae281e5e5eb
DOI
10.21203/rs.3.rs-1841370/v1
Open publication

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A novel mutation, c.1342T>C (p.Cys448Arg) identified from an infant with fever-triggered recurrent acute liver failure, affects expressions of NBAS mRNA and protein and induces cellular stress in vitroDOI 10.21203/rs.3.rs-1841370/v1
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