ABCA3 p.Pro933Leu
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PMID: 23166334
[PubMed]
Wambach JA et al: "Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome."
No.
Sentence
Comment
67
Only 1 of these infants was compound heterozygous for ABCA3 mutations (p.E292V/p.P933L) and therefore had ABCA3 deficiency.
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ABCA3 p.Pro933Leu 23166334:67:81
status: NEW