PMID: 16316951

Edwards V, Cutz E, Viero S, Moore AM, Nogee L
Ultrastructure of lamellar bodies in congenital surfactant deficiency.
Ultrastruct Pathol. 2005 Nov-Dec;29(6):503-9., [PubMed]
Sentences
No. Mutations Sentence Comment
54 ABCA3 p.Arg1561Lys
X
ABCA3 p.Arg1561Lys 16316951:54:239
status: NEW
view ABCA3 p.Arg1561Lys details
 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]. Login to comment