ABCA3 p.Ser1028Val
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PMID: 24136335
[PubMed]
Epaud R et al: "Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations."
No.
Sentence
Comment
47
Sequence analysis of the ABCA3 gene identified two mutations: 1) c.3081_3092delinsCG resulting in a serine to valine change at codon 1028 with the creation of a stop codon 103 amino acids downstream (p.Ser1028Valfs*103); and 2) the common mutation c.875A.T changing a glutamic acid to a valine at codon 292 (p.Glu292Val).
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ABCA3 p.Ser1028Val 24136335:47:100
status: NEW