The most frequent ABCA3 nonsense mutation -p.Tyr1515* (Y1515X) causing lethal neonatal respiratory failure in a term neonate

Defects in the surfactant biosynthesis are associated with respiratory distress syndrome, commonly occurring in premature infants due to lung immaturity. However, interstitial lung diseases have also been observed in full-term infants with mutations in the SFTPC, SFTPB, NKX2-1, or ABCA3 genes, invol...

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Detalles Bibliográficos
Autores principales: AlAnazi, AlNashmi, Epaud, Ralph, Heena, Humariya, de becdelievre, Alix, Miqdad, Abeer Mohammad, Fanen, Pascale
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5541971/
https://www.ncbi.nlm.nih.gov/pubmed/28808495
http://dx.doi.org/10.4103/atm.ATM_386_16

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5541971/
https://www.ncbi.nlm.nih.gov/pubmed/28808495
http://dx.doi.org/10.4103/atm.ATM_386_16

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