A novel variant in NBAS identified from an infant with fever-triggered recurrent acute liver failure disrupts the function of the gene

Mutations in the neuroblastoma amplified sequence (NBAS) gene correlate with infantile acute liver failure (ALF). Herein, we identified a novel NBAS mutation in a female infant diagnosed with recurrent ALF. Whole-exome and Sanger sequencing revealed that the proband carried a compound heterozygous m...

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Detalles Bibliográficos
Autores principales: Ji, Juhua, Yang, Mingming, Jia, JunJun, Wu, Qi, Cong, Ruochen, Cui, Hengxiang, Zhu, Baofeng, Chu, Xin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10102179/
https://www.ncbi.nlm.nih.gov/pubmed/37055399
http://dx.doi.org/10.1038/s41439-023-00241-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10102179/
https://www.ncbi.nlm.nih.gov/pubmed/37055399
http://dx.doi.org/10.1038/s41439-023-00241-0

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