8549ffa839b3623dab19104deb46ffc7 JouMedGen_a2023v60n6p615iENG.pdf aea3323110606093f61a7524ecf1361102757b42 JouMedGen_a2023v60n6p615iENG.pdf 88aff53d0ded2d4f6b23ba9efb21d6ab3ce3bf2e1dcaf75e4e6e97fa9a43e275 JouMedGen_a2023v60n6p615iENG.pdf Title: Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events Creator: Adobe InDesign 15.1 (Windows) Producer: Adobe PDF Library 15.0 CreationDate: Thu May 11 13:16:37 2023 CEST ModDate: Thu May 2 11:44:35 2024 CEST Custom Metadata: yes Metadata Stream: yes Tagged: no UserProperties: no Suspects: no Form: none JavaScript: no Pages: 5 Encrypted: no Page size: 595.276 x 793.701 pts Page rot: 0 File size: 1587303 bytes Optimized: no PDF version: 1.4 name type encoding emb sub uni object ID ------------------------------------ ----------------- ---------------- --- --- --- --------- KACTFD+ArialMT CID TrueType Identity-H yes yes yes 212 0 GWIXGL+FrutigerLTPro-LightCn Type 1C Custom yes yes yes 12 0 LOUJTB+FrutigerLTPro-Condensed Type 1C Custom yes yes yes 9 0 HQTYUJ+FrutigerLTPro-BoldCn Type 1C Custom yes yes yes 11 0 ZRUCMZ+FrutigerLTPro-LightCnIta Type 1C Custom yes yes yes 51 0 Helvetica Type 1 WinAnsi no no no 292 0 FQPPNN+ClassicalGaramondBT-Roman TrueType WinAnsi yes yes yes 8 0 OOYRJV+ClassicalGaramondBT-Italic TrueType WinAnsi yes yes yes 7 0 GWIXGL+FrutigerLTPro-LightCn Type 1C WinAnsi yes yes yes 283 0 ZRUCMZ+FrutigerLTPro-LightCnIta Type 1C Custom yes yes yes 285 0 HQTYUJ+FrutigerLTPro-BoldCn Type 1C WinAnsi yes yes yes 287 0 JELNRF+FrutigerLTPro-BoldCnIta Type 1C WinAnsi yes yes yes 10 0 GWIXGL+FrutigerLTPro-LightCn Type 1C WinAnsi yes yes yes 155 0 ZRUCMZ+FrutigerLTPro-LightCnIta Type 1C Custom yes yes yes 160 0 HQTYUJ+FrutigerLTPro-BoldCn Type 1C WinAnsi yes yes yes 157 0 GWIXGL+FrutigerLTPro-LightCn Type 1C WinAnsi yes yes yes 165 0 ZRUCMZ+FrutigerLTPro-LightCnIta Type 1C Custom yes yes yes 164 0 HQTYUJ+FrutigerLTPro-BoldCn Type 1C WinAnsi yes yes yes 163 0 EZYEZP+Symbol Type 1C Custom yes yes yes 55 0 Jhove (Rel. 1.28.0, 2023-05-18) Date: 2024-05-04 02:42:22 CEST RepresentationInformation: JouMedGen_a2023v60n6p615iENG.pdf ReportingModule: PDF-hul, Rel. 1.12.4 (2023-03-16) LastModified: 2024-05-02 15:09:30 CEST Size: 1587303 Format: PDF Version: 1.4 Status: Well-Formed and valid SignatureMatches: PDF-hul MIMEtype: application/pdf PDFMetadata: Objects: 318 FreeObjects: 16 IncrementalUpdates: 0 DocumentCatalog: ViewerPreferences: HideToolbar: false HideMenubar: false HideWindowUI: false FitWindow: false CenterWindow: false DisplayDocTitle: false NonFullScreenPageMode: UseNone Direction: L2R ViewArea: CropBox ViewClip: CropBox PrintArea: CropBox PageClip: CropBox PageLayout: SinglePage PageMode: UseNone Language: en-US Outlines: Item: Title: Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events Children: Item: Title: Abstract Item: Title: Introduction Item: Title: Methodology Children: Item: Title: Patients Item: Title: Amplification of DMD cDNA sequence Item: Title: gDNA analysis and whole-genome sequencing (WGS) Item: Title: Droplet digital PCR (ddPCR) Item: Title: Results Children: Item: Title: Deep intronic variants and PE inclusion Item: Title: Chromosomal rearrangement Item: Title: Alternative exon skipping events with unclear pathogenicity Item: Title: Discussion Item: Title: References Info: Title: Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events Creator: Adobe InDesign 15.1 (Windows) Producer: Adobe PDF Library 15.0 CreationDate: Thu May 11 13:46:37 CEST 2023 ModDate: Thu May 02 04:44:35 CEST 2024 ID: 0x91f21962e23dda44ad371d75230e0165, 0xbc31a538d21db2110a00510810000000 Filters: FilterPipeline: FlateDecode Images: Image: NisoImageMetadata: FormatName: image/png ImageWidth: 2131 ImageHeight: 2296 ColorSpace: RGB BitsPerSample: 8 BitsPerSampleUnit: integer Filter: FlateDecode Intent: RelativeColorimetric Name: X Fonts: Type0: Font: BaseFont: KACTFD+ArialMT Encoding: Identity-H ToUnicode: true Type1: Font: BaseFont: ZRUCMZ+FrutigerLTPro-LightCnIta FontSubset: true FirstChar: 31 LastChar: 118 FontDescriptor: FontName: ZRUCMZ+FrutigerLTPro-LightCnIta Flags: Nonsymbolic FontBBox: -161, -250, 991, 919 FontFile3: true EncodingDictionary: BaseEncoding: WinAnsiEncoding Differences: true ToUnicode: true Font: BaseFont: Helvetica Encoding: WinAnsiEncoding Font: BaseFont: EZYEZP+Symbol FontSubset: true FirstChar: 31 LastChar: 31 FontDescriptor: FontName: EZYEZP+Symbol Flags: Symbolic FontBBox: -180, -293, 1090, 1010 FontFile3: true EncodingDictionary: BaseEncoding: WinAnsiEncoding Differences: true ToUnicode: true Font: BaseFont: LOUJTB+FrutigerLTPro-Condensed FontSubset: true FirstChar: 30 LastChar: 150 FontDescriptor: FontName: LOUJTB+FrutigerLTPro-Condensed Flags: Nonsymbolic FontBBox: -105, -250, 1000, 929 FontFile3: true EncodingDictionary: BaseEncoding: WinAnsiEncoding Differences: true ToUnicode: true Font: BaseFont: JELNRF+FrutigerLTPro-BoldCnIta FontSubset: true FirstChar: 68 LastChar: 77 FontDescriptor: FontName: JELNRF+FrutigerLTPro-BoldCnIta Flags: Nonsymbolic FontBBox: -173, -250, 1012, 940 FontFile3: true Encoding: WinAnsiEncoding ToUnicode: true Font: BaseFont: HQTYUJ+FrutigerLTPro-BoldCn FontSubset: true FirstChar: 31 LastChar: 135 FontDescriptor: FontName: HQTYUJ+FrutigerLTPro-BoldCn Flags: Nonsymbolic FontBBox: -112, -250, 1000, 940 FontFile3: true EncodingDictionary: BaseEncoding: WinAnsiEncoding Differences: true ToUnicode: true Font: BaseFont: GWIXGL+FrutigerLTPro-LightCn FontSubset: true FirstChar: 30 LastChar: 246 FontDescriptor: FontName: GWIXGL+FrutigerLTPro-LightCn Flags: Nonsymbolic FontBBox: -100, -250, 1000, 919 FontFile3: true EncodingDictionary: BaseEncoding: WinAnsiEncoding Differences: true ToUnicode: true TrueType: Font: BaseFont: OOYRJV+ClassicalGaramondBT-Italic FontSubset: true FirstChar: 48 LastChar: 79 FontDescriptor: FontName: OOYRJV+ClassicalGaramondBT-Italic Flags: Serif, Nonsymbolic FontBBox: -167, -237, 1275, 963 FontFile2: true Encoding: WinAnsiEncoding ToUnicode: true Font: BaseFont: FQPPNN+ClassicalGaramondBT-Roman FontSubset: true FirstChar: 32 LastChar: 177 FontDescriptor: FontName: FQPPNN+ClassicalGaramondBT-Roman Flags: Serif, Nonsymbolic FontBBox: -166, -237, 1261, 963 FontFile2: true Encoding: WinAnsiEncoding ToUnicode: true CIDFontType2: Font: BaseFont: KACTFD+ArialMT CIDSystemInfo: Registry: Adobe Registry: Identity Supplement: 0 FontDescriptor: FontName: KACTFD+ArialMT Flags: Symbolic FontBBox: -665, -325, 2000, 1006 FontFile2: true XMP: doi:jmg-2022-108828 application/pdf 2023-05-11T16:46:37+05:30 2024-05-02T02:44:35-07:00 2024-05-02T02:44:35-07:00 Adobe InDesign 15.1 (Windows) uuid:38a532e9-1dd2-11b2-0a00-aa0088c8f5ff xmp.did:B2C59A163194E611BD009A7CB80B8EC7 xmp.id:6a2490ec-663f-dc44-a6bb-6f0c2872af47 proof:pdf xmp.iid:90a9cc07-4a4c-1640-85f0-f4461c336e8d xmp.did:467fa891-f147-2342-858e-bb0f1a2fbfb9 xmp.did:B2C59A163194E611BD009A7CB80B8EC7 default converted from application/x-indesign to application/pdf Adobe InDesign 15.1 (Windows) / 2023-05-11T16:46:37+05:30 ee3bb031-b55b-4298-9d96-7512030de222 Adobe PDF Library 15.0 False Pages: Page: Label: 615 Sequence: 1 Annotations: Annotation: Subtype: Link Rect: 40, 34, 65, 18 Annotation: Subtype: Link Rect: 244, 646, 253, 630 Annotation: Subtype: Link Rect: 418, 646, 427, 630 Annotation: Subtype: Link Rect: 97, 528, 123, 518 Annotation: Subtype: Link Rect: 42, 519, 122, 509 Annotation: Subtype: Link Rect: 42, 510, 65, 500 Annotation: Subtype: Link Rect: 40, 180, 136, 157 Annotation: Subtype: Link Rect: 198, 154, 201, 143 ActionDest: 96 Annotation: Subtype: Link Rect: 170, 121, 173, 110 ActionDest: 96 Annotation: Subtype: Link Rect: 476, 544, 480, 533 ActionDest: 96 Annotation: Subtype: Link Rect: 388, 456, 397, 445 ActionDest: 96 Annotation: Subtype: Link Rect: 452, 434, 460, 423 ActionDest: 96 Annotation: Subtype: Link Rect: 417, 401, 420, 390 ActionDest: 96 Annotation: Subtype: Link Rect: 470, 54, 496, 43 ActionDest: 1 Annotation: Subtype: Link Rect: 576, 284, 587, 362 Page: Label: 616 Sequence: 2 Annotations: Annotation: Subtype: Link Rect: 148, 376, 260, 365 Annotation: Subtype: Link Rect: 165, 310, 288, 299 Annotation: Subtype: Link Rect: 42, 299, 209, 288 Annotation: Subtype: Link Rect: 139, 166, 146, 155 ActionDest: 96 Annotation: Subtype: Link Rect: 44, 87, 151, 76 Annotation: Subtype: Link Rect: 518, 274, 544, 263 ActionDest: 1 Annotation: Subtype: Link Rect: 341, 241, 381, 230 ActionDest: 47 Annotation: Subtype: Link Rect: 479, 208, 485, 197 ActionDest: 96 Annotation: Subtype: Link Rect: 309, 175, 345, 164 ActionDest: 47 Annotation: Subtype: Link Rect: 366, 175, 474, 164 Annotation: Subtype: Link Rect: 364, 109, 401, 98 ActionDest: 47 Annotation: Subtype: Link Rect: 447, 65, 486, 54 ActionDest: 47 Annotation: Subtype: Link Rect: 496, 65, 553, 54 Annotation: Subtype: Link Rect: 306, 54, 361, 43 Annotation: Subtype: Link Rect: 576, 284, 587, 362 Page: Label: 617 Sequence: 3 Annotations: Annotation: Subtype: Link Rect: 576, 284, 587, 362 Page: Label: 618 Sequence: 4 Annotations: Annotation: Subtype: Link Rect: 219, 703, 225, 692 ActionDest: 96 Annotation: Subtype: Link Rect: 172, 659, 179, 648 ActionDest: 96 Annotation: Subtype: Link Rect: 203, 534, 240, 524 ActionDest: 47 Annotation: Subtype: Link Rect: 139, 468, 176, 458 ActionDest: 47 Annotation: Subtype: Link Rect: 120, 446, 157, 436 ActionDest: 47 Annotation: Subtype: Link Rect: 257, 366, 283, 355 ActionDest: 1 Annotation: Subtype: Link Rect: 140, 223, 250, 212 Annotation: Subtype: Link Rect: 238, 142, 247, 131 ActionDest: 96 Annotation: Subtype: Link Rect: 157, 76, 184, 65 ActionDest: 1 Annotation: Subtype: Link Rect: 369, 591, 421, 580 ActionDest: 47 Annotation: Subtype: Link Rect: 535, 558, 542, 547 ActionDest: 96 Annotation: Subtype: Link Rect: 342, 446, 358, 435 ActionDest: 96 Annotation: Subtype: Link Rect: 488, 413, 504, 402 ActionDest: 96 Annotation: Subtype: Link Rect: 418, 391, 447, 380 ActionDest: 1 Annotation: Subtype: Link Rect: 412, 368, 429, 357 ActionDest: 96 Annotation: Subtype: Link Rect: 426, 246, 433, 235 ActionDest: 96 Annotation: Subtype: Link Rect: 461, 179, 511, 168 ActionDest: 47 Annotation: Subtype: Link Rect: 576, 284, 587, 362 Page: Label: 619 Sequence: 5 Annotations: Annotation: Subtype: Link Rect: 126, 545, 172, 535 Annotation: Subtype: Link Rect: 258, 545, 264, 535 Annotation: Subtype: Link Rect: 42, 535, 70, 525 Annotation: Subtype: Link Rect: 111, 193, 247, 183 Annotation: Subtype: Link Rect: 100, 167, 214, 157 Annotation: Subtype: Link Rect: 129, 158, 244, 148 Annotation: Subtype: Link Rect: 220, 125, 238, 116 Annotation: Subtype: Link Rect: 339, 737, 394, 729 Annotation: Subtype: Link Rect: 336, 710, 362, 702 Annotation: Subtype: Link Rect: 397, 656, 428, 648 Annotation: Subtype: Link Rect: 529, 629, 550, 621 Annotation: Subtype: Link Rect: 319, 620, 335, 612 Annotation: Subtype: Link Rect: 441, 593, 467, 585 Annotation: Subtype: Link Rect: 494, 566, 545, 558 Annotation: Subtype: Link Rect: 423, 530, 458, 521 Annotation: Subtype: Link Rect: 359, 503, 424, 494 Annotation: Subtype: Link Rect: 444, 476, 483, 467 Annotation: Subtype: Link Rect: 510, 431, 541, 422 Annotation: Subtype: Link Rect: 507, 404, 538, 395 Annotation: Subtype: Link Rect: 462, 377, 493, 368 Annotation: Subtype: Link Rect: 383, 350, 416, 341 Annotation: Subtype: Link Rect: 399, 332, 430, 323 Annotation: Subtype: Link Rect: 351, 314, 394, 305 Annotation: Subtype: Link Rect: 512, 287, 532, 278 Annotation: Subtype: Link Rect: 482, 251, 542, 242 Annotation: Subtype: Link Rect: 471, 188, 502, 179 Annotation: Subtype: Link Rect: 514, 125, 552, 116 Annotation: Subtype: Link Rect: 576, 284, 587, 362 Checksum: 7bdc3560 Type: CRC32 Checksum: 8549ffa839b3623dab19104deb46ffc7 Type: MD5 Checksum: aea3323110606093f61a7524ecf1361102757b42 Type: SHA-1 Checksum: 88aff53d0ded2d4f6b23ba9efb21d6ab3ce3bf2e1dcaf75e4e6e97fa9a43e275 Type: SHA-256