Article
Fatal familial lung disease caused by ABCA3 deficiency without identified ABCA3 mutations.
The Journal of pediatrics - 1 Jul 2010
Gower W Adam, Wert Susan E, Ginsberg Jennifer S, Golan Agneta, Whitsett Jeffrey A, Nogee Lawrence M
Abstract excerpt
OBJECTIVE: To test the hypothesis that some functionally significant variants in the gene encoding member A3 of the ATP Binding Cassette family (ABCA3) are not detected using exon-based sequencing approaches. STUDY DESIGN: The first of 2 female siblings who died from neonatal respiratory failure was examined for mutations with sequence analysis of all ABCA3 exons and known regulatory elements within the 5'...
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