Respiratory distress syndrome due to a novel homozygous ABCA3 mutation in a term neonate

The authors report, for the first time in the literature, a case of respiratory distress syndrome in a term baby due to homozygosity for a p.Trp308Arg/W308R substitution in the ATP-binding cassette transporter 3. The sequence was confirmed by genetic analysis of the baby and both parents. Management...

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Detalhes bibliográficos
Main Authors: Parappil, Hussain, Al Baridi, Ahmad, ur Rahman, Sajjad, Kitchi, Mahmood H, Ruef, P, Griese, M, Lohse, P, Aslanidis, C, Schmitz, G, Koch, L, Poeschl, J
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3063289/
https://ncbi.nlm.nih.gov/pubmed/22707629
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.10.2010.3427
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