Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report

BACKGROUND: Pulmonary surfactant is a complex mixture of lipids and proteins. Mutations in surfactant protein-C, surfactant protein-D, and adenosine triphosphate-binding cassette subfamily A member 3 have been related to surfactant dysfunction and neonatal respiratory failure in full-term babies. Ad...

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Detalles Bibliográficos
Autores principales: Pachajoa, Harry, Ruiz-Botero, Felipe, Meza-Escobar, Luis Enrique, Villota-Delgado, Vania Alexandra, Ballesteros, Adriana, Padilla, Ivan, Duarte, Diana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5037624/
https://www.ncbi.nlm.nih.gov/pubmed/27670912
http://dx.doi.org/10.1186/s13256-016-1027-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5037624/
https://www.ncbi.nlm.nih.gov/pubmed/27670912
http://dx.doi.org/10.1186/s13256-016-1027-z

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