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

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. Adenosine trip...

Full description

Autores:

Pachajoa Londoño, Harry Mauricio
Duarte, Duarte
Padilla, Iván
Ballesteros, Adriana
Villota Delgado, Vania Alexandra
Meza-Escobar, Luis Enrique
Ruiz Botero, Felipe

Tipo de recurso:

Article of investigation

Fecha de publicación:

2016

Institución:

Universidad ICESI

Repositorio:

Repositorio ICESI

Idioma:

eng

OAI Identifier:

oai:repository.icesi.edu.co:10906/81642

Acceso en línea:

http://hdl.handle.net/10906/81642
http://dx.doi.org/10.1186/s13256-016-1027-z

Palabra clave:

Medical sciences
Birth defect
Ciencias socio biomédicas
Enfermedad respiratoria
Insuficiencia respiratoria
Recién nacido
Genética en niños

Rights

openAccess

License

https://creativecommons.org/licenses/by-nc-nd/4.0/