ABCA3 p.Trp12*
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PMID: 15976379
[PubMed]
Bullard JE et al: "ABCA3 mutations associated with pediatric interstitial lung disease."
No.
Sentence
Comment
82
A similar pattern of robust staining for proSP-B with reduced staining for mature SP-B, which was recovered after antigen retrieval, was observed in Patients 3 and 8 (not shown), as well as in lung tissue from a full-term neonate who was a compound heterozygote for two ABCA3 mutations (W12X/ 3997delAG; Figure 2).
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ABCA3 p.Trp12* 15976379:82:287
status: NEW130 A similar pattern is seen in lung tissue from a full-term neonate with fatal lung disease who was a compound heterozygote for ABCA3 null mutations (W12X/3997delAG; middle column: B, E, H, K, N; original magnification, ϫ20).
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ABCA3 p.Trp12* 15976379:130:148
status: NEW