ABCMdb

PMID: 21867529

Peca D, Petrini S, Tzialla C, Boldrini R, Morini F, Stronati M, Carnielli VP, Cogo PE, Danhaive O
Altered surfactant homeostasis and recurrent respiratory failure secondary to TTF-1 nuclear targeting defect.
Respir Res. 2011 Aug 25;12:115., [PubMed]

Sentences

No. Mutations Sentence Comment

10 ABCA3 p.Leu941Pro Genetic studies identified a heterozygous ABCA3 mutation, L941P, previously unreported. Login to comment 70 ABCA3 p.Leu941Pro ABCA3 sequencing showed a mono-allelic variation, c3381 T>C, leading to the aminoacidic sequence change L941P, not previously reported, which was carried by the father and was not present in 100 control alleles, hence to be considered a novel heterozygous missense mutation. Login to comment 71 ABCA3 p.Leu941Pro ABCA3 sequencing showed a mono-allelic variation, c3381 T>C, leading to the aminoacidic sequence change L941P, not previously reported, which was carried by the father and was not present in 100 control alleles, hence to be considered a novel heterozygous missense mutation. Login to comment