A novel synonymous ABCA3 variant identified in a Chinese family with lethal neonatal respiratory failure

BACKGROUND: Lethal respiratory failure is primarily caused by a deficiency of pulmonary surfactant, and is the main cause of neonatal death among preterm infants. Pulmonary surfactant metabolism dysfunction caused by variants in the ABCA3 gene is a rare disease with very poor prognosis. Currently, t...

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Detalles Bibliográficos
Autores principales: Zhang, Weifeng, Liu, Zhiyong, Lin, Yiming, Wang, Ruiquan, Xu, Jinglin, He, Ying, Zhang, Fengfeng, Wu, Lianqiang, Chen, Dongmei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8556997/
https://www.ncbi.nlm.nih.gov/pubmed/34715861
http://dx.doi.org/10.1186/s12920-021-01098-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8556997/
https://www.ncbi.nlm.nih.gov/pubmed/34715861
http://dx.doi.org/10.1186/s12920-021-01098-4

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