PMID: 23846195

Hallik M, Annilo T, Ilmoja ML
Different course of lung disease in two siblings with novel ABCA3 mutations.
Eur J Pediatr. 2014 Dec;173(12):1553-6. doi: 10.1007/s00431-013-2087-3. Epub 2013 Jul 12., [PubMed]
Sentences
No. Mutations Sentence Comment
34 ABCA3 p.Asp696Asn
X
ABCA3 p.Asp696Asn 23846195:34:118
status: NEW
view ABCA3 p.Asp696Asn details
 Two novel compound heterozygous mutations in the ABCA3 gene were found: Asp507 del CA Ter 508 mutation in exon 13 and Asp696 Asn (D696 N) in exon 17. Login to comment 37 ABCA3 p.Asp696Asn
X
ABCA3 p.Asp696Asn 23846195:37:200
status: NEW
view ABCA3 p.Asp696Asn details
 Parental studies identified the father as a carrier of the deletion mutation Asp507 del CA Ter 508 in exon 13, which was coupled to the exon 13+66 G/A polymorphism, and the mother as a carrier of the Asp696 Asn (D696 N) missense mutation in exon 17. Login to comment