ABCA3 p.Arg1561Lys
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PMID: 16316951
[PubMed]
Edwards V et al: "Ultrastructure of lamellar bodies in congenital surfactant deficiency."
No.
Sentence
Comment
54
Note the random lamellae and the associated membranous and vesicular structures within composite bodies and abnormally large vesicular body (Ã ), Â30,000. mutation in coding exon 8 (A > G); nonsense mutation in coding exon 27, R1561K [8].
X
ABCA3 p.Arg1561Lys 16316951:54:239
status: NEW