PMID: 24628317

Moore GP, Lines MA, Geraghty MT, de Nanassy J, Kovesi T
Novel mutation in ABCA3 resulting in fatal congenital surfactant deficiency in two siblings.
Am J Respir Crit Care Med. 2014 Mar 15;189(6):750-2. doi: 10.1164/rccm.201312-2225LE., [PubMed]
Sentences
No. Mutations Sentence Comment
39 ABCA3 p.Ser1116Phe
X
ABCA3 p.Ser1116Phe 24628317:39:5
status: NEW
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 T (p.Ser1116Phe). Login to comment 41 ABCA3 p.Thr1114Met
X
ABCA3 p.Thr1114Met 24628317:41:25
status: NEW
view ABCA3 p.Thr1114Met details
 A nearby substitution, p.Thr1114Met, abolishes transporter activity of the mutant protein (7). Login to comment