PMID: 23881110

Herber-Jonat S, Mittal R, Huppmann M, Hammel M, Liebisch G, Yildirim AO, Eickelberg O, Schmitz G, Hrabe de Angelis M, Flemmer AW, Holzinger A
Abca3 haploinsufficiency is a risk factor for lung injury induced by hyperoxia or mechanical ventilation in a murine model.
Pediatr Res. 2013 Oct;74(4):384-92. doi: 10.1038/pr.2013.127. Epub 2013 Jul 23., [PubMed]
Sentences
No. Mutations Sentence Comment
11 ABCA3 p.Glu292Val
X
ABCA3 p.Glu292Val 23881110:11:94
status: NEW
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 Defined heterozygous mutations also contribute to lung disease, the most common of them being E292V (4), found to be present in 4-7% of neonates with respiratory distress syndrome, with an incidence of 0.4-1.3% in the Caucasian population (6-8). Login to comment 128 ABCA3 p.Glu292Val
X
ABCA3 p.Glu292Val 23881110:128:41
status: NEW
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 Heterozygous ABCA3 mutations, especially E292V, are common in neonates with respiratory distress syndrome (6,7,9), and this is associated with a greater incidence of pneumothorax and chronic lung disease in very preterm neonates (6). Login to comment 213 ABCA3 p.Glu292Val
X
ABCA3 p.Glu292Val 23881110:213:65
status: NEW
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 B&#e6;kvad-Hansen M, Nordestgaard BG, Dahl M. Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals. Login to comment