Targeted next-generation sequencing reveals two novel mutations of NBAS in a patient with infantile liver failure syndrome-2

Mutations in neuroblastoma amplified sequence (NBAS) cause infantile liver failure syndrome-2 (ILFS2). NBAS is a protein involved in Golgi-to-endoplasmic reticulum retrograde transport. Exon capture in combination with high-throughput sequencing was used to detect NBAS mutations. Via targeted sequen...

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Detalles Bibliográficos
Autores principales: Wang, Jiao, Pu, Zhongji, Lu, Zhenhua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2018
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5783466/
https://www.ncbi.nlm.nih.gov/pubmed/29207168
http://dx.doi.org/10.3892/mmr.2017.8191

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5783466/
https://www.ncbi.nlm.nih.gov/pubmed/29207168
http://dx.doi.org/10.3892/mmr.2017.8191

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