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

• Asıl Yazarlar: Weifeng Zhang (Yazar), Zhiyong Liu (Yazar), Yiming Lin (Yazar), Ruiquan Wang (Yazar), Jinglin Xu (Yazar), Ying He (Yazar), Fengfeng Zhang (Yazar), Lianqiang Wu (Yazar), Dongmei Chen (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2021-10-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Abstract 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. Curr...