title: Novel mutation in ABCA3 resulting in fatal congenital surfactant deficiency in two siblings.
authors.affiliation: 1 Children's Hospital of Eastern Ontario Ottawa, Ontario, Canada and.
authors.forename: Gregory P
authors.initials: GP
authors.lastname: Moore
authors.forename: Matthew A
authors.initials: MA
authors.lastname: Lines
authors.forename: Michael T
authors.initials: MT
authors.lastname: Geraghty
authors.forename: Joseph
authors.initials: J
authors.lastname: de Nanassy
authors.forename: Thomas
authors.initials: T
authors.lastname: Kovesi
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D017563:Lung Diseases, Interstitial / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D008297:Male; D020125:Mutation, Missense; D012127:Respiratory Distress Syndrome, Newborn / Q000209:etiology*; D035781:Siblings
chemical_list: C441524:ABCA3 protein, human; D018528:ATP-Binding Cassette Transporters; D005819:Genetic Markers