| Autor: |
Wambach, Jennifer A., Wegner, Daniel J., Kitzmiller, Joseph, White, Frances V., Heins, Hillary B., Ping Yang, Paul, Alexander J., Granadillo, Jorge L., Eghtesady, Pirooz, Kuklinski, Cadence, Turner, Tiffany, Fairman, Korre, Stone, Kristyne, Wilson, Theodore, Breman, Amy, Smith, Janice, Schroeder, Molly C., Neidich, Julie A., Whitsett, Jeffrey A., Sessions Cole, F. |
| Předmět: |
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| Zdroj: |
American Journal of Respiratory Cell & Molecular Biology; Jan2024, Vol. 70 Issue 1, p78-80, 3p |
| Abstrakt: |
The article focuses on a study of neonatal respiratory failure caused by a homozygous, intragenic tandem duplication of the Surfactant Protein-B (SFTPB) gene, leading to SP-B deficiency. Topics discussed include the molecular details of the genetic variant, the significance of advanced sequencing techniques in detecting complex structural variations, and the implications for understanding and managing rare respiratory disorders. |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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