b193a8f6f5df7ea788ddd0904ca26069 fphys-12-628236_2_.pdf a40958502ae39c753b0c9d13e4e87510fb71968d fphys-12-628236_2_.pdf d7efabf367df08189c7ad7fdbc935634849de733cc0bc02a1910ad21f7c6fb55 fphys-12-628236_2_.pdf Title: Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases Subject: Unstable hemoglobinopathies (UHs) are rare anemia disorders (RADs) characterized by abnormal hemoglobin (Hb) variants with decreased stability. Keywords: unstable hemoglobinopathies, dominant beta-thalassemia, next generation sequencing, whole exome sequencing, rare anemia disorders Author: Maria del Mar Mañú-Pereira Creator: LaTeX with hyperref package Producer: pdfTeX-1.40.15 CreationDate: Sat Jan 30 13:59:42 2021 CET ModDate: Sat Jan 30 15:45:38 2021 CET Tagged: no UserProperties: no Suspects: no Form: none JavaScript: no Pages: 9 Encrypted: no Page size: 595.276 x 779.528 pts Page rot: 0 File size: 1473993 bytes Optimized: no PDF version: 1.6 name type encoding emb sub uni object ID ------------------------------------ ----------------- ---------------- --- --- --- --------- MJUWWC+MinionPro-Regular Type 1 Custom yes yes no 25 0 OXYMEX+HelveticaNeueLTStd-Bd Type 1 Custom yes yes no 26 0 WAWJGO+HelveticaNeueLTStd-Lt Type 1 Custom yes yes no 27 0 CCVXXJ+HelveticaNeueLTStd-BdIt Type 1 Custom yes yes no 32 0 QPKMWQ+HelveticaNeueLTStd-LtIt Type 1 Custom yes yes no 33 0 LCYYCM+HelveticaNeueLTStd-MdIt Type 1 Custom yes yes no 34 0 CIRWCM+MinionPro-It Type 1 Custom yes yes no 83 0 HRFVUK+MinionPro-Bold Type 1 Custom yes yes no 90 0 XODHDR+RBLMI Type 1 Builtin yes yes no 108 0 FAZOLS+MTSYN Type 1 Builtin yes yes no 107 0 CMERJW+MTGU Type 1 Builtin yes yes no 279 0 Jhove (Rel. 1.22.1, 2019-04-17) Date: 2023-05-27 03:08:37 CEST RepresentationInformation: fphys-12-628236_2_.pdf ReportingModule: PDF-hul, Rel. 1.12.1 (2019-04-17) LastModified: 2023-03-31 12:05:01 CEST Size: 1473993 Format: PDF Version: 1.6 Status: Well-Formed and valid SignatureMatches: PDF-hul MIMEtype: application/pdf PDFMetadata: Objects: 0 FreeObjects: 10 IncrementalUpdates: 0 DocumentCatalog: PageLayout: SinglePage PageMode: UseOutlines Outlines: Item: Title: Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases Children: Item: Title: Introduction Item: Title: Patients and Methods Children: Item: Title: Clinical Reports Item: Title: Genetics Analysis Item: Title: Results Item: Title: Discussion Item: Title: Data Availability Statement Item: Title: Ethics Statement Item: Title: Author Contributions Item: Title: Funding Item: Title: Acknowledgments Item: Title: References Filters: FilterPipeline: FlateDecode Fonts: Type1: Font: BaseFont: CCVXXJ+HelveticaNeueLTStd-BdIt FontSubset: true FirstChar: 42 LastChar: 121 FontDescriptor: FontName: CCVXXJ+HelveticaNeueLTStd-BdIt Flags: Symbolic FontBBox: -166, -218, 1129, 975 FontFile: true EncodingDictionary: Differences: true Font: BaseFont: QPKMWQ+HelveticaNeueLTStd-LtIt FontSubset: true FirstChar: 2 LastChar: 250 FontDescriptor: FontName: QPKMWQ+HelveticaNeueLTStd-LtIt Flags: Symbolic FontBBox: -165, -214, 1099, 951 FontFile: true EncodingDictionary: Differences: true Font: BaseFont: LCYYCM+HelveticaNeueLTStd-MdIt FontSubset: true FirstChar: 2 LastChar: 250 FontDescriptor: FontName: LCYYCM+HelveticaNeueLTStd-MdIt Flags: Symbolic FontBBox: -165, -218, 1125, 947 FontFile: true EncodingDictionary: Differences: true Font: BaseFont: CIRWCM+MinionPro-It FontSubset: true FirstChar: 2 LastChar: 250 FontDescriptor: FontName: CIRWCM+MinionPro-It Flags: Symbolic FontBBox: -201, -360, 1684, 919 FontFile: true EncodingDictionary: Differences: true Font: BaseFont: CMERJW+MTGU FontSubset: true FirstChar: 98 LastChar: 98 FontDescriptor: FontName: CMERJW+MTGU Flags: Symbolic FontBBox: 25, -213, 839, 683 FontFile: true Font: BaseFont: MJUWWC+MinionPro-Regular FontSubset: true FirstChar: 2 LastChar: 233 FontDescriptor: FontName: MJUWWC+MinionPro-Regular Flags: Symbolic FontBBox: -289, -360, 1684, 917 FontFile: true EncodingDictionary: Differences: true Font: BaseFont: OXYMEX+HelveticaNeueLTStd-Bd FontSubset: true FirstChar: 40 LastChar: 124 FontDescriptor: FontName: OXYMEX+HelveticaNeueLTStd-Bd Flags: Symbolic FontBBox: -166, -218, 1078, 975 FontFile: true EncodingDictionary: Differences: true Font: BaseFont: HRFVUK+MinionPro-Bold FontSubset: true FirstChar: 3 LastChar: 117 FontDescriptor: FontName: HRFVUK+MinionPro-Bold Flags: Symbolic FontBBox: -318, -360, 1684, 917 FontFile: true EncodingDictionary: Differences: true Font: BaseFont: WAWJGO+HelveticaNeueLTStd-Lt FontSubset: true FirstChar: 2 LastChar: 151 FontDescriptor: FontName: WAWJGO+HelveticaNeueLTStd-Lt Flags: Symbolic FontBBox: -166, -214, 1050, 967 FontFile: true EncodingDictionary: Differences: true Font: BaseFont: FAZOLS+MTSYN FontSubset: true FirstChar: 1 LastChar: 48 FontDescriptor: FontName: FAZOLS+MTSYN Flags: Symbolic FontBBox: 0, -954, 1043, 900 FontFile: true Font: BaseFont: XODHDR+RBLMI FontSubset: true FirstChar: 60 LastChar: 62 FontDescriptor: FontName: XODHDR+RBLMI Flags: Symbolic FontBBox: -11, -230, 987, 750 FontFile: true XMP: unstable hemoglobinopathies, dominant beta-thalassemia, next generation sequencing, whole exome sequencing, rare anemia disorders pdfTeX-1.40.15 1.5 application/pdf fphys-12-628236.tex Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases Unstable hemoglobinopathies (UHs) are rare anemia disorders (RADs) characterized by abnormal hemoglobin (Hb) variants with decreased stability. Maria del Mar Mañú-Pereira unstable hemoglobinopathies dominant beta-thalassemia next generation sequencing whole exome sequencing rare anemia disorders 2021-01-30T18:29:42+05:30 2021-01-30T18:29:42+05:30 2021-01-30T20:15:38+05:30 2021-01-30T20:15:38+05:30 LaTeX with hyperref package uuid:959b6c4c-90a8-426c-8c41-d759bb62b620 uuid:12e4df0c-8e08-443d-9102-b3c5735768fc Pages: Page: Sequence: 1 Annotations: Annotation: Subtype: Link Rect: 43, 718, 147, 754 Annotation: Subtype: Link Rect: 474, 736, 551, 745 Annotation: Subtype: Link Rect: 462, 727, 551, 737 Annotation: Subtype: Link Rect: 449, 718, 551, 729 Annotation: Subtype: Link Rect: 86, 452, 160, 462 Annotation: Subtype: Link Rect: 71, 66, 160, 74 Annotation: Subtype: Link Rect: 521, 677, 551, 707 Annotation: Subtype: Link Rect: 176, 560, 551, 650 Annotation: Subtype: Link Rect: 43, 29, 113, 38 Annotation: Subtype: Link Rect: 116, 29, 176, 38 Annotation: Subtype: Link Rect: 418, 29, 551, 38 Page: Sequence: 2 Annotations: Annotation: Subtype: Link Rect: 122, 545, 157, 557 ActionDest: 252 Annotation: Subtype: Link Rect: 160, 545, 180, 557 ActionDest: 252 Annotation: Subtype: Link Rect: 183, 545, 263, 557 ActionDest: 252 Annotation: Subtype: Link Rect: 267, 545, 287, 557 ActionDest: 252 Annotation: Subtype: Link Rect: 47, 374, 115, 385 ActionDest: 252 Annotation: Subtype: Link Rect: 118, 374, 138, 385 ActionDest: 252 Annotation: Subtype: Link Rect: 206, 316, 266, 328 ActionDest: 298 Annotation: Subtype: Link Rect: 270, 316, 290, 328 ActionDest: 298 Annotation: Subtype: Link Rect: 43, 306, 89, 316 ActionDest: 298 Annotation: Subtype: Link Rect: 91, 306, 112, 316 ActionDest: 298 Annotation: Subtype: Link Rect: 81, 89, 111, 99 ActionDest: 104 Annotation: Subtype: Link Rect: 391, 626, 431, 637 ActionDest: 104 Annotation: Subtype: Link Rect: 436, 626, 443, 637 ActionDest: 123 Annotation: Subtype: Link Rect: 338, 603, 374, 614 ActionDest: 123 Annotation: Subtype: Link Rect: 43, 29, 113, 38 Annotation: Subtype: Link Rect: 116, 29, 176, 38 Annotation: Subtype: Link Rect: 418, 29, 551, 38 Page: Sequence: 3 Annotations: Annotation: Subtype: Link Rect: 0, 95, 1, 108 ActionDest: 5 Annotation: Subtype: Link Rect: 0, 95, 1, 108 ActionDest: 5 Annotation: Subtype: Link Rect: 43, 29, 113, 38 Annotation: Subtype: Link Rect: 116, 29, 176, 38 Annotation: Subtype: Link Rect: 418, 29, 551, 38 Page: Sequence: 4 Annotations: Annotation: Subtype: Link Rect: 43, 29, 113, 38 Annotation: Subtype: Link Rect: 116, 29, 176, 38 Annotation: Subtype: Link Rect: 418, 29, 551, 38 Page: Sequence: 5 Annotations: Annotation: Subtype: Link Rect: 43, 29, 113, 38 Annotation: Subtype: Link Rect: 116, 29, 176, 38 Annotation: Subtype: Link Rect: 418, 29, 551, 38 Page: Sequence: 6 Annotations: Annotation: Subtype: Link Rect: 217, 300, 248, 311 ActionDest: 142 Annotation: Subtype: Link Rect: 68, 222, 74, 231 ActionDest: 164 Annotation: Subtype: Link Rect: 253, 185, 258, 196 ActionDest: 164 Annotation: Subtype: Link Rect: 127, 162, 132, 173 ActionDest: 164 Annotation: Subtype: Link Rect: 47, 73, 170, 86 Annotation: Subtype: Link Rect: 47, 63, 111, 75 Annotation: Subtype: Link Rect: 47, 52, 111, 65 Annotation: Subtype: Link Rect: 383, 438, 388, 449 ActionDest: 164 Annotation: Subtype: Link Rect: 525, 438, 530, 449 ActionDest: 164 Annotation: Subtype: Link Rect: 403, 403, 408, 415 ActionDest: 164 Annotation: Subtype: Link Rect: 446, 167, 477, 176 ActionDest: 104 Annotation: Subtype: Link Rect: 305, 73, 437, 86 Annotation: Subtype: Link Rect: 305, 63, 421, 75 Annotation: Subtype: Link Rect: 305, 52, 411, 65 Annotation: Subtype: Link Rect: 43, 29, 113, 38 Annotation: Subtype: Link Rect: 116, 29, 176, 38 Annotation: Subtype: Link Rect: 418, 29, 551, 38 Page: Sequence: 7 Annotations: Annotation: Subtype: Link Rect: 137, 467, 193, 477 ActionDest: 252 Annotation: Subtype: Link Rect: 195, 467, 215, 477 ActionDest: 252 Annotation: Subtype: Link Rect: 143, 259, 209, 270 ActionDest: 298 Annotation: Subtype: Link Rect: 215, 259, 235, 270 ActionDest: 298 Annotation: Subtype: Link Rect: 242, 259, 290, 270 ActionDest: 252 Annotation: Subtype: Link Rect: 43, 248, 64, 259 ActionDest: 252 Annotation: Subtype: Link Rect: 113, 156, 176, 167 ActionDest: 252 Annotation: Subtype: Link Rect: 183, 156, 203, 167 ActionDest: 252 Annotation: Subtype: Link Rect: 209, 156, 229, 167 ActionDest: 252 Annotation: Subtype: Link Rect: 505, 706, 551, 717 ActionDest: 252 Annotation: Subtype: Link Rect: 302, 694, 325, 706 ActionDest: 252 Annotation: Subtype: Link Rect: 330, 694, 351, 706 ActionDest: 252 Annotation: Subtype: Link Rect: 417, 603, 460, 614 ActionDest: 252 Annotation: Subtype: Link Rect: 463, 603, 483, 614 ActionDest: 252 Annotation: Subtype: Link Rect: 526, 488, 551, 500 ActionDest: 252 Annotation: Subtype: Link Rect: 302, 477, 322, 488 ActionDest: 252 Annotation: Subtype: Link Rect: 325, 477, 345, 488 ActionDest: 252 Annotation: Subtype: Link Rect: 361, 397, 393, 408 ActionDest: 298 Annotation: Subtype: Link Rect: 396, 397, 416, 408 ActionDest: 298 Annotation: Subtype: Link Rect: 305, 272, 337, 282 ActionDest: 298 Annotation: Subtype: Link Rect: 339, 272, 360, 282 ActionDest: 298 Annotation: Subtype: Link Rect: 437, 214, 486, 225 ActionDest: 298 Annotation: Subtype: Link Rect: 488, 214, 509, 225 ActionDest: 298 Annotation: Subtype: Link Rect: 446, 76, 489, 87 ActionDest: 104 Annotation: Subtype: Link Rect: 496, 76, 503, 87 ActionDest: 123 Annotation: Subtype: Link Rect: 43, 29, 113, 38 Annotation: Subtype: Link Rect: 116, 29, 176, 38 Annotation: Subtype: Link Rect: 418, 29, 551, 38 Page: Sequence: 8 Annotations: Annotation: Subtype: Link Rect: 193, 591, 242, 603 ActionDest: 298 Annotation: Subtype: Link Rect: 246, 591, 266, 603 ActionDest: 298 Annotation: Subtype: Link Rect: 270, 591, 292, 603 ActionDest: 252 Annotation: Subtype: Link Rect: 43, 580, 66, 591 ActionDest: 252 Annotation: Subtype: Link Rect: 72, 580, 92, 591 ActionDest: 252 Annotation: Subtype: Link Rect: 101, 523, 148, 534 ActionDest: 298 Annotation: Subtype: Link Rect: 151, 523, 171, 534 ActionDest: 298 Annotation: Subtype: Link Rect: 471, 615, 533, 626 Annotation: Subtype: Link Rect: 302, 603, 474, 614 Annotation: Subtype: Link Rect: 234, 232, 293, 242 Annotation: Subtype: Link Rect: 53, 223, 107, 232 Annotation: Subtype: Link Rect: 100, 185, 187, 194 Annotation: Subtype: Link Rect: 82, 168, 185, 175 Annotation: Subtype: Link Rect: 53, 148, 144, 156 Annotation: Subtype: Link Rect: 190, 119, 264, 128 Annotation: Subtype: Link Rect: 192, 90, 267, 100 Annotation: Subtype: Link Rect: 399, 242, 477, 251 Annotation: Subtype: Link Rect: 330, 205, 439, 213 Annotation: Subtype: Link Rect: 326, 167, 548, 175 Annotation: Subtype: Link Rect: 466, 90, 543, 100 Annotation: Subtype: Link Rect: 43, 29, 113, 38 Annotation: Subtype: Link Rect: 116, 29, 176, 38 Annotation: Subtype: Link Rect: 418, 29, 551, 38 Page: Sequence: 9 Annotations: Annotation: Subtype: Link Rect: 207, 687, 277, 697 Annotation: Subtype: Link Rect: 53, 650, 155, 659 Annotation: Subtype: Link Rect: 251, 621, 293, 631 Annotation: Subtype: Link Rect: 53, 614, 117, 621 Annotation: Subtype: Link Rect: 178, 583, 291, 593 Annotation: Subtype: Link Rect: 123, 555, 226, 564 Annotation: Subtype: Link Rect: 508, 687, 551, 697 Annotation: Subtype: Link Rect: 312, 680, 375, 687 Annotation: Subtype: Link Rect: 404, 593, 430, 602 Annotation: Subtype: Link Rect: 431, 593, 463, 602 Annotation: Subtype: Link Rect: 463, 593, 498, 602 Annotation: Subtype: Link Rect: 498, 593, 522, 602 Annotation: Subtype: Link Rect: 522, 593, 549, 602 Annotation: Subtype: Link Rect: 43, 29, 113, 38 Annotation: Subtype: Link Rect: 116, 29, 176, 38 Annotation: Subtype: Link Rect: 418, 29, 551, 38 Checksum: 0fa90fa0 Type: CRC32 Checksum: b193a8f6f5df7ea788ddd0904ca26069 Type: MD5 Checksum: a40958502ae39c753b0c9d13e4e87510fb71968d Type: SHA-1