Neonatal respiratory failure due to novel compound heterozygous mutations in the ABCA3 lipid transporter

The ATP-binding cassette transporter member A3 (ABCA3) is a lipid transporter with a critical function in pulmonary surfactant biogenesis. Biallelic loss-of-function mutations in ABCA3 result in severe surfactant deficiency leading to neonatal respiratory failure with death in the first year of life...

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Detalles Bibliográficos
Autores principales: Oltvai, Zoltán N., Smith, Eric A., Wiens, Katie, Nogee, Lawrence M., Luquette, Mark, Nelson, Andrew C., Wikenheiser-Brokamp, Kathryn A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2020
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304364/
https://www.ncbi.nlm.nih.gov/pubmed/32532878
http://dx.doi.org/10.1101/mcs.a005074

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