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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Cold Spring Harb Mol Case Stud |
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| Κύριοι συγγραφείς: | , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Cold Spring Harbor Laboratory Press
2020
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| Θέματα: | |
| Διαθέσιμο Online: | 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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