e73063ff5173fd4187a12f23621e0d35 pmc_31258551.pdf 0c175a0b758ece04e560c02552f2fface66a0a7e pmc_31258551.pdf 52f5e3454c484c584fba9dd61f2eb31e447f5d253fee47cd19c1253098af57ce pmc_31258551.pdf Title: Identification and Characterization of New RNASEH1 Mutations Associated With PEO Syndrome and Multiple Mitochondrial DNA Deletions Subject: Mitochondrial DNA (mtDNA) depletion and deletion syndrome encompasses a group of disorders caused by mutations in genes involved in mtDNA replication and maintenance. Keywords: mtDNA, mitochondrial disease, PEO, multiple mtDNA deletions, RNASEH1 Author: Javier Torres-Torronteras and Elena García-Arumí Creator: LaTeX with hyperref package Producer: pdfTeX-1.40.15 CreationDate: Fri Jun 14 12:13:56 2019 CEST ModDate: Fri Jun 14 12:13:56 2019 CEST Tagged: no UserProperties: no Suspects: no Form: none JavaScript: no Pages: 8 Encrypted: no Page size: 595.276 x 779.528 pts Page rot: 0 File size: 1542489 bytes Optimized: no PDF version: 1.5 name type encoding emb sub uni object ID ------------------------------------ ----------------- ---------------- --- --- --- --------- RKYLWY+MinionPro-Regular Type 1 Custom yes yes no 29 0 SWXSEE+HelveticaNeueLTStd-Bd Type 1 Custom yes yes no 30 0 LCUJDT+HelveticaNeueLTStd-Lt Type 1 Custom yes yes no 31 0 KQZFZK+HelveticaNeueLTStd-BdIt Type 1 Custom yes yes no 36 0 OYHQTE+HelveticaNeueLTStd-LtIt Type 1 Custom yes yes no 37 0 NCZABX+HelveticaNeueLTStd-MdIt Type 1 Custom yes yes no 38 0 XQHKOQ+RBLMI Type 1 Builtin yes yes no 39 0 SRVHKB+MinionPro-It Type 1 Custom yes yes no 108 0 VVSQSF+MTSYN Type 1 Builtin yes yes no 120 0 EWYLZG+MTGU Type 1 Builtin yes yes no 171 0 DYNRDI+MinionPro-Bold Type 1 Custom yes yes no 189 0 Jhove (Rel. 1.22.1, 2019-04-17) Date: 2020-08-10 12:38:55 CEST RepresentationInformation: pmc_31258551.pdf ReportingModule: PDF-hul, Rel. 1.12.1 (2019-04-17) LastModified: 2020-03-16 03:44:19 CET Size: 1542489 Format: PDF Version: 1.5 Status: Well-Formed and valid SignatureMatches: PDF-hul MIMEtype: application/pdf PDFMetadata: Objects: 514 FreeObjects: 6 IncrementalUpdates: 0 DocumentCatalog: PageLayout: SinglePage PageMode: UseOutlines Outlines: Item: Title: Identification and Characterization of New RNASEH1 Mutations Associated With PEO Syndrome and Multiple Mitochondrial DNA Deletions Children: Item: Title: Introduction Item: Title: Materials and Methods Children: Item: Title: Histopathological Studies Item: Title: Cell Culture Conditions Item: Title: Genetic Studies Item: Title: Quantification of mtDNA Copy Number and Analysis of Multiple Deletions Item: Title: Western Blot Item: Title: Recombinant Human RNase H1 Protein Production Item: Title: RNase H1 Activity Assay Item: Title: Statistics and Quantification Item: Title: Results Children: Item: Title: Case Report Item: Title: Genetic and Molecular Studies Item: Title: Characterization of the Mutation in Skin Fibroblasts Item: Title: Discussion Item: Title: Conclusion Item: Title: Data Availability Item: Title: Ethics Statement Item: Title: Author Contributions Item: Title: Funding Item: Title: References Info: Title: Identification and Characterization of New RNASEH1 Mutations Associated With PEO Syndrome and Multiple Mitochondrial DNA Deletions Author: Javier Torres-Torronteras and Elena García-Arumí Subject: Mitochondrial DNA (mtDNA) depletion and deletion syndrome encompasses a group of disorders caused by mutations in genes involved in mtDNA replication and maintenance. Keywords: mtDNA, mitochondrial disease, PEO, multiple mtDNA deletions, RNASEH1 Creator: LaTeX with hyperref package Producer: pdfTeX-1.40.15 CreationDate: Fri Jun 14 12:43:56 CEST 2019 ModDate: Fri Jun 14 12:43:56 CEST 2019 ID: 0xb403138bd385de9710620dd386696dd0, 0xb403138bd385de9710620dd386696dd0 Filters: FilterPipeline: FlateDecode Fonts: Type1: Font: BaseFont: KQZFZK+HelveticaNeueLTStd-BdIt FontSubset: true FirstChar: 42 LastChar: 121 FontDescriptor: FontName: KQZFZK+HelveticaNeueLTStd-BdIt Flags: Symbolic FontBBox: -166, -218, 1129, 975 FontFile: true EncodingDictionary: Differences: true Font: BaseFont: OYHQTE+HelveticaNeueLTStd-LtIt FontSubset: true FirstChar: 2 LastChar: 243 FontDescriptor: FontName: OYHQTE+HelveticaNeueLTStd-LtIt Flags: Symbolic FontBBox: -165, -214, 1099, 951 FontFile: true EncodingDictionary: Differences: true Font: BaseFont: NCZABX+HelveticaNeueLTStd-MdIt FontSubset: true FirstChar: 42 LastChar: 241 FontDescriptor: FontName: NCZABX+HelveticaNeueLTStd-MdIt Flags: Symbolic FontBBox: -165, -218, 1125, 947 FontFile: true EncodingDictionary: Differences: true Font: BaseFont: XQHKOQ+RBLMI FontSubset: true FirstChar: 55 LastChar: 62 FontDescriptor: FontName: XQHKOQ+RBLMI Flags: Symbolic FontBBox: -11, -230, 987, 750 FontFile: true Font: BaseFont: VVSQSF+MTSYN FontSubset: true FirstChar: 0 LastChar: 48 FontDescriptor: FontName: VVSQSF+MTSYN Flags: Symbolic FontBBox: 0, -954, 1043, 900 FontFile: true Font: BaseFont: EWYLZG+MTGU FontSubset: true FirstChar: 98 LastChar: 109 FontDescriptor: FontName: EWYLZG+MTGU Flags: Symbolic FontBBox: 25, -213, 839, 683 FontFile: true Font: BaseFont: SRVHKB+MinionPro-It FontSubset: true FirstChar: 40 LastChar: 241 FontDescriptor: FontName: SRVHKB+MinionPro-It Flags: Symbolic FontBBox: -201, -360, 1684, 919 FontFile: true EncodingDictionary: Differences: true Font: BaseFont: RKYLWY+MinionPro-Regular FontSubset: true FirstChar: 2 LastChar: 150 FontDescriptor: FontName: RKYLWY+MinionPro-Regular Flags: Symbolic FontBBox: -289, -360, 1684, 917 FontFile: true EncodingDictionary: Differences: true Font: BaseFont: DYNRDI+MinionPro-Bold FontSubset: true FirstChar: 3 LastChar: 117 FontDescriptor: FontName: DYNRDI+MinionPro-Bold Flags: Symbolic FontBBox: -318, -360, 1684, 917 FontFile: true EncodingDictionary: Differences: true Font: BaseFont: SWXSEE+HelveticaNeueLTStd-Bd FontSubset: true FirstChar: 2 LastChar: 124 FontDescriptor: FontName: SWXSEE+HelveticaNeueLTStd-Bd Flags: Symbolic FontBBox: -166, -218, 1078, 975 FontFile: true EncodingDictionary: Differences: true Font: BaseFont: LCUJDT+HelveticaNeueLTStd-Lt FontSubset: true FirstChar: 2 LastChar: 241 FontDescriptor: FontName: LCUJDT+HelveticaNeueLTStd-Lt Flags: Symbolic FontBBox: -166, -214, 1050, 967 FontFile: true EncodingDictionary: Differences: true XMP: mtDNA, mitochondrial disease, PEO, multiple mtDNA deletions, RNASEH1 pdfTeX-1.40.15 1.5 application/pdf Identification and Characterization of New RNASEH1 Mutations Associated With PEO Syndrome and Multiple Mitochondrial DNA Deletions Mitochondrial DNA (mtDNA) depletion and deletion syndrome encompasses a group of disorders caused by mutations in genes involved in mtDNA replication and maintenance. 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