Article

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

2021-01-13

Abstract excerpt

<h4>Background: </h4> Lethal respiratory failure is mostly caused by pulmonary surfactant (PS) deficiency and is the main cause of neonatal death. PS metabolism dysfunction caused by mutations in the ABCA3 gene is a rare disease with very poor prognosis. However, the underlying mechanism of genetic mutations causing PS metabolism dysfunction has not been fully elucidated yet. This study aimed to identify the genet...

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Literature Corpus work: f4816542-f0ff-54da-8793-268d5b75bfb7
DOI: 10.21203/rs.3.rs-146531/v1

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