While many causal genes have been identified for chILD, understanding its pathogenesis has been impeded ... also carry mutations in a gene called, ABCA3, the most common genetic cause of the ...

Nogee notes that because one infant with the ABCA3 mutation survived its initial lung disease, some ABCA3 mutations may not be fatal. "Our findings provide yet another clue as to what may trigger ...

The study is the first to identify a single gene -- ABCA3-- that is associated with a significant number of cases of respiratory distress syndrome (RDS) in babies born at or near full term.

This study examined the molecular pathogenesis of such a mutation of ... was performed with antibodies against proSP-C, SP-B, ABCA3 (Abcam, Cambridge, UK), or proSP-B (Novocastra, Newcastle ...

Their findings, reported in this week's New England Journal of Medicine, confirm that mutations in the ABCA3 gene lead to a serious lack of surfactant, a mixture of fats and proteins that enables ...

The study is the first to identify a single gene — ABCA3 — that is associated with a significant number of cases of respiratory distress syndrome (RDS) in babies born at or near full term.