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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Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Cold Spring Harb Mol Case Stud
Päätekijät: Oltvai, Zoltán N., Smith, Eric A., Wiens, Katie, Nogee, Lawrence M., Luquette, Mark, Nelson, Andrew C., Wikenheiser-Brokamp, Kathryn A.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Cold Spring Harbor Laboratory Press 2020
Aiheet:
Research Reports
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7304364/
https://ncbi.nlm.nih.gov/pubmed/32532878
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a005074
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