A New ABCA3 Gene Mutation c.3445G>A (p.Asp1149Asn) as a Causative Agent of Newborn Lethal Respiratory Distress Syndrome

Mutations in adenosine triphosphate-binding cassette transporter A3 (ABCA3) (OMIM: 601615) gene constitute the most frequent genetic cause of severe neonatal respiratory distress syndrome (RDS) and interstitial lung disease (ILD) in children. Interstitial lung disease in children and especially in i...

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Detalles Bibliográficos
Autores principales: Mitsiakos, Georgios, Tsakalidis, Christos, Karagianni, Paraskevi, Gialamprinou, Dimitra, Chatziioannidis, Ilias, Papoulidis, Ioannis, Tsanakas, Ioannis, Soubasi, Vasiliki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6681327/
https://www.ncbi.nlm.nih.gov/pubmed/31331098
http://dx.doi.org/10.3390/medicina55070389

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6681327/
https://www.ncbi.nlm.nih.gov/pubmed/31331098
http://dx.doi.org/10.3390/medicina55070389

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