PMID: 25031143

Panigrahy N, Poddutoor PK, Chirla DK
ATP-binding cassette transporter A3 (ABCA3) mutation in a late preterm with respiratory distress syndrome.
Indian Pediatr. 2014 Jul;51(7):579-80., [PubMed]
Sentences
No. Mutations Sentence Comment
41 ABCA3 p.Glu292Val
X
ABCA3 p.Glu292Val 25031143:41:239
status: NEW
view ABCA3 p.Glu292Val details
 The clinical course of babies with ABCA3 deficiency varies from presentation in neonatal period to that in childhood presenting as interstitial lung disease.A common mutation involving substitution of valine for glutamic acid in codon 292(E292V), of the ABCA3 protein, has been identified in older children with chronic interstitial lung disease [1]. Login to comment