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Quantitative Lipid Profiling Reveals Major Differences between Liver Organoids with Normal Pi*M and Deficient Pi*Z Variants of Alpha-1-antitrypsin
Different mutations in the SERPINA1 gene result in alpha-1 antitrypsin (AAT) deficiency and in an increased risk for the development of liver diseases. More than 90% of severe deficiency patients are homozygous for Z (Glu342Lys) mutation. This mutation causes Z-AAT polymerization and intrahepatic ac...
Autores principales: | Pérez-Luz, Sara, Lalchandani, Jaanam, Matamala, Nerea, Barrero, Maria Jose, Gil-Martín, Sara, Saz, Sheila Ramos-Del, Varona, Sarai, Monzón, Sara, Cuesta, Isabel, Justo, Iago, Marcacuzco, Alberto, Hierro, Loreto, Garfia, Cristina, Gomez-Mariano, Gema, Janciauskiene, Sabina, Martínez-Delgado, Beatriz |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10419530/ https://www.ncbi.nlm.nih.gov/pubmed/37569847 http://dx.doi.org/10.3390/ijms241512472 |
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