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found Offset: 3827831 ID: PDF-HUL-122 ErrorMessage: edu.harvard.hul.ois.jhove.module.pdf.PdfInvalidException: Invalid indirect destination - referenced object 'B39' cannot be found Offset: 3827831 ID: PDF-HUL-122 ErrorMessage: edu.harvard.hul.ois.jhove.module.pdf.PdfInvalidException: Invalid indirect destination - referenced object 'B16' cannot be found Offset: 3827831 MIMEtype: application/pdf PDFMetadata: Objects: 811 FreeObjects: 1 IncrementalUpdates: 2 DocumentCatalog: PageLayout: SinglePage PageMode: UseOutlines Outlines: Item: Title: Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@6121c9d6 Children: Item: Title: Introduction Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@87f383f Item: Title: Materials and methods Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@4eb7f003 Children: Item: Title: Patient and samples Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@eafc191 Item: Title: Evaluation of DNTs by flow cytometry Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@612fc6eb Item: Title: CD3+ cell enrichment Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@1060b431 Item: Title: Genetic analysis by Sanger sequencing Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@612679d6 Item: Title: Genetic analysis by NGS-based deep amplicon sequencing (DAS) Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@11758f2a Item: Title: Bioinformatic analysis Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@e720b71 Item: Title: Literature review Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@1b26f7b2 Item: Title: Results Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@491cc5c9 Children: Item: Title: Discovery of a novel pathogenic somatic variant underlying ALPS in a pediatric patient Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@74ad1f1f Item: Title: Evolutionary dynamics of the somatic FAS variant and DNTs along time Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@6a1aab78 Item: Title: Detection of somatic FAS variants under immunosuppressive treatment: Diagnostic implications Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@462d5aee Item: Title: Review of somatic FAS variants reported in ALPS patients Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@69b0fd6f Item: Title: Discussion Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@757942a1 Item: Title: Data availability statement Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@4a87761d Item: Title: Ethics statement Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@66d1af89 Item: Title: Author contributions Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@8646db9 Item: Title: Funding Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@37374a5e Item: Title: Acknowledgments Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@4671e53b Item: Title: Supplementary material Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@2db7a79b Item: Title: References Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@6950e31 Info: Title: Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications Author: Laura Batlle-Masó Subject: Autoimmune lymphoproliferative syndrome (ALPS) is a rare primary immune disorder characterized by impaired apoptotic homeostasis Keywords: primary immunodeficiencies, inborn errors of immunity, autoimmune lymphoproliferative syndrome, FAS, somatic mutation, genetics, next-generation sequencing Creator: Arbortext Advanced Print Publisher 10.0.1306/W 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Unicode 2022-11-16T15:06:23+08:00 application/pdf Laura Batlle-Mas&oacute Marina Garcia-Prat Alba Parra-Mart&iacute nez Clara Franco-Jarava Aina Aguil&oacute -Cucurull Pablo Velasco Mar&iacute a Antol&iacute n Jacques G. Rivi&egrave re Andrea Mart&iacute n-Nalda Pere Soler-Palac&iacute n M&oacute nica Mart&iacute nez-Gallo Roger Colobran Autoimmune lymphoproliferative syndrome (ALPS) is a rare primary immune disorder characterized by impaired apoptotic homeostasis Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications primary immunodeficiencies inborn errors of immunity autoimmune lymphoproliferative syndrome FAS somatic mutation genetics next-generation sequencing uuid:d486eb19-5d20-47e2-868c-2aee3e6edfd4 uuid:51c17d1c-da9e-47e7-b45d-274d96b88e56 Pages: Page: Label: 1 Annotations: Annotation: Subtype: Link Rect: 222, 676, 486, 697 Annotation: Subtype: Link Rect: 222, 651, 463, 672 Annotation: Subtype: Link Rect: 222, 626, 450, 647 Annotation: Subtype: Link Rect: 222, 601, 519, 622 Annotation: Subtype: Link Rect: 222, 576, 447, 597 Annotation: Subtype: Link Rect: 56, 39, 136, 46 Annotation: Subtype: Link Rect: 492, 39, 538, 46 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