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Journal Article
Science, ISSN 0036-8075, 6/2011, Volume 332, Issue 6036, pp. 1429 - 1433
Journal Article
Nature Cell Biology, ISSN 1465-7392, 06/2013, Volume 15, Issue 6, pp. 647 - 658
Journal Article
EMBO Molecular Medicine, ISSN 1757-4676, 03/2013, Volume 5, Issue 3, pp. 397 - 412
Alpha‐1‐anti‐trypsin deficiency is the most common genetic cause of liver disease in children and liver transplantation is currently the only available... 
TFEB | gene therapy | alpha‐1‐anti‐trypsin | autophagy | helper‐dependent adenoviral vector | Alpha-1-anti-trypsin | Helper-dependent adenoviral vector | Gene therapy | Autophagy | NONHUMAN-PRIMATES | MEDICINE, RESEARCH & EXPERIMENTAL | DEPENDENT ADENOVIRAL VECTORS | ALPHA-ANTITRYPSIN DEFICIENCY | LIVER-DISEASE | helper-dependent adenoviral vector | TRANSGENE EXPRESSION | alpha-1-anti-trypsin | HEMOPHILIA-B | ENDOPLASMIC-RETICULUM | ALPHA-1-ANTITRYPSIN DEFICIENCY | NF-KAPPA-B | MUTANT ALPHA-ANTITRYPSIN-Z | Liver - pathology | Liver - enzymology | Microtubule-Associated Proteins - genetics | Humans | NF-kappa B - metabolism | Mutation, Missense | Lysosomes - metabolism | Transfection | Time Factors | Liver Cirrhosis - metabolism | Autophagy - genetics | Microtubule-Associated Proteins - deficiency | Interleukin-6 - metabolism | Liver Cirrhosis - genetics | Disease Models, Animal | alpha 1-Antitrypsin Deficiency - genetics | Gene Transfer Techniques | Genetic Predisposition to Disease | alpha 1-Antitrypsin - genetics | alpha 1-Antitrypsin Deficiency - therapy | Mice, Inbred C57BL | Mice, Transgenic | Liver Cirrhosis - therapy | alpha 1-Antitrypsin Deficiency - metabolism | Mice, Knockout | Papio | Autophagy-Related Protein 7 | Phenotype | Animals | alpha 1-Antitrypsin Deficiency - complications | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - genetics | Liver Cirrhosis - pathology | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - metabolism | Mice | alpha 1-Antitrypsin - metabolism | HeLa Cells | Apoptosis | Genetic Therapy - methods | Proteins | Trypsin | Liver diseases | Genes | Genetic engineering | Genetic transcription | Health aspects | Phenotypes | Gene transfer | Syngeneic grafts | Cloning | Transgenic mice | Gene expression | Medical screening | Studies | Allografts | Plasmids | Fibrosis | Polymers | Phagocytosis | Deoxyribonucleic acid--DNA | Liver transplantation | Index Medicus
Journal Article
Molecular Therapy, ISSN 1525-0016, 01/2011, Volume 19, Issue 1, pp. 83 - 92
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 06/2019, Volume 380, Issue 25, pp. 2478 - 2480
As knowledge about genetic causes of disease improves, periodic reanalysis of clinical exome sequence could yield new genetic information. This study showed... 
MEDICINE, GENERAL & INTERNAL | Genetic counseling | Laboratories | Patients | Genomics
Journal Article
Human Mutation, ISSN 1059-7794, 03/2019, Volume 40, Issue 3, pp. 267 - 280
Journal Article
Genome Medicine, ISSN 1756-994X, 09/2018, Volume 10, Issue 1, pp. 74 - 14
Journal Article