ABCA3 p.Asp696Asn
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PMID: 23846195
[PubMed]
Hallik M et al: "Different course of lung disease in two siblings with novel ABCA3 mutations."
No.
Sentence
Comment
34
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.
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ABCA3 p.Asp696Asn 23846195:34:118
status: NEW37 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.
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ABCA3 p.Asp696Asn 23846195:37:200
status: NEW