4ffb8face22f0571d6329bb5c6bfc15b pmc_31781168.pdf 75a351f5c1c54ede8da2c4bc82481354cb27bf70 pmc_31781168.pdf 54cc47e51b1cb2d0f8bad699d9b769cd21b2069e6352a96a13d44ecee888ca3e pmc_31781168.pdf Title: Haplotype Analysis of the First A4V-SOD1 Spanish Family: Two Separate Founders or a Single Common Founder? Subject: Despite the genetic heterogeneity reported in familial amyotrophic lateral sclerosis (ALS) (fALS), Cu/Zn superoxide-dismutase (SOD1) gene mutations are the second most common cause of the disease, accounting for around 20% of all families (ALS1) and isol Keywords: SOD1, A4V, p.A5V, amyotrophic lateral sclerosis, familial amyotrophic lateral sclerosis, ALS1, founder effect Author: Cecilia Garcia Creator: Adobe InDesign CC 2015 (Windows) Producer: Adobe PDF Library 15.0 CreationDate: Thu Nov 7 19:56:12 2019 CET ModDate: Fri Nov 8 01:56:03 2019 CET Tagged: yes 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: 1829545 bytes Optimized: no PDF version: 1.4 name type encoding emb sub uni object ID ------------------------------------ ----------------- ---------------- --- --- --- --------- HelveticaNeueLTStd-Bd Type 1C Custom yes no yes 1259 0 HelveticaNeueLTStd-BdIt Type 1C WinAnsi yes no yes 1260 0 HelveticaNeueLTStd-LtIt Type 1C Custom yes no yes 1261 0 HelveticaNeueLTStd-MdIt Type 1C WinAnsi yes no yes 1275 0 HelveticaNeueLTStd-Lt Type 1C Custom yes no yes 1276 0 MinionProMTC-Regular Type 1C Custom yes no yes 1283 0 MinionProMTC-Italic Type 1C Custom yes no yes 120 0 MinionPro-Bold Type 1C Custom yes no yes 115 0 HelveticaNeueLTStd-Md Type 1C WinAnsi yes no yes 110 0 EAUDDP+STIXGeneral Type 1C WinAnsi yes yes yes 150 0 EAUDDP+MinionPro-Regular Type 1C Custom yes yes yes 181 0 Jhove (Rel. 1.22.1, 2019-04-17) Date: 2020-08-10 12:16:46 CEST RepresentationInformation: pmc_31781168.pdf ReportingModule: PDF-hul, Rel. 1.12.1 (2019-04-17) LastModified: 2020-03-09 03:41:29 CET Size: 1829545 Format: PDF Version: 1.4 Status: Well-Formed and valid SignatureMatches: PDF-hul MIMEtype: application/pdf PDFMetadata: Objects: 1351 FreeObjects: 1213 IncrementalUpdates: 3 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: UseOutlines Outlines: Item: Title: Haplotype Analysis of the First A4V-SOD1 Spanish Family: Two Separate Founders or a Single Common Founder? Children: Item: Title: Introduction Item: Title: Material and Methods Children: Item: Title: Subjects Item: Title: Genetic Studies Children: Item: Title: Selection of Single Nucleotide Polymorphisms for Analysis of the SOD1 Haplotype Item: Title: Genotyping of Normal and Mutant p.A5V Alleles in SOD1 Item: Title: Genotyping of Single Nucleotide Polymorphisms and Microsatellite Item: Title: Analysis of Data Item: Title: Results Children: Item: Title: Clinical Characteristics of the p.A5V-SOD1 Pedigree Item: Title: Genetic Results Item: Title: Haplotype Analysis Item: Title: Discussion Children: Item: Title: Redefining the p.A5V-SOD1 Phenotype. Reasons for the Disease’s Aggressive Course Item: Title: Founder Effect Children: Item: Title: A Single Origin for All p.A5V-SOD1 Families Worldwide Item: Title: Several Origins (One for Asians, One for Americans, and Perhaps One or More for Europeans) Item: Title: Data Availability Statement Item: Title: Ethics Statement Item: Title: Author Contributions Item: Title: Funding Item: Title: Acknowledgments Item: Title: Supplementary Material Item: Title: References Info: Title: Haplotype Analysis of the First A4V-SOD1 Spanish Family: Two Separate Founders or a Single Common Founder? Author: Cecilia Garcia Subject: Despite the genetic heterogeneity reported in familial amyotrophic lateral sclerosis (ALS) (fALS), Cu/Zn superoxide-dismutase (SOD1) gene mutations are the second most common cause of the disease, accounting for around 20% of all families (ALS1) and isol Keywords: SOD1, A4V, p.A5V, amyotrophic lateral sclerosis, familial amyotrophic lateral sclerosis, ALS1, founder effect Creator: Adobe InDesign CC 2015 (Windows) Producer: Adobe PDF Library 15.0 CreationDate: Thu Nov 07 19:56:12 CET 2019 ModDate: Fri Nov 08 01:56:03 CET 2019 ID: 0xf15e082a174f3e4d8c3e53e00b9f7bc3, 0x77a224801f3760418a86f506d944cf92 Filters: FilterPipeline: FlateDecode FilterPipeline: DCTDecode Images: Image: NisoImageMetadata: FormatName: image/png ImageWidth: 1476 ImageHeight: 773 ColorSpace: RGB BitsPerSample: 8 BitsPerSampleUnit: integer Filter: FlateDecode Intent: RelativeColorimetric Name: X Image: NisoImageMetadata: FormatName: image/png ImageWidth: 1654 ImageHeight: 744 ColorSpace: RGB BitsPerSample: 8 BitsPerSampleUnit: integer Filter: FlateDecode Intent: RelativeColorimetric Name: X Image: NisoImageMetadata: FormatName: image/jpg CompressionScheme: JPEG ImageWidth: 1772 ImageHeight: 689 ColorSpace: RGB BitsPerSample: 8 BitsPerSampleUnit: integer Intent: RelativeColorimetric Name: X Fonts: Type1: Font: BaseFont: MinionProMTC-Regular FirstChar: 0 LastChar: 255 FontDescriptor: FontName: MinionProMTC-Regular Flags: Serif, Nonsymbolic FontBBox: -290, -360, 1684, 989 FontFile3: true EncodingDictionary: BaseEncoding: WinAnsiEncoding Differences: true ToUnicode: true Font: BaseFont: MinionPro-Bold FirstChar: 0 LastChar: 255 FontDescriptor: FontName: MinionPro-Bold Flags: Serif, Nonsymbolic FontBBox: -319, -360, 1684, 1024 FontFile3: true EncodingDictionary: BaseEncoding: WinAnsiEncoding Differences: true ToUnicode: true Font: BaseFont: EAUDDP+MinionPro-Regular FontSubset: true FirstChar: 31 LastChar: 31 FontDescriptor: FontName: EAUDDP+MinionPro-Regular Flags: Serif, Nonsymbolic FontBBox: -290, -360, 1684, 989 FontFile3: true EncodingDictionary: BaseEncoding: WinAnsiEncoding Differences: true ToUnicode: true Font: BaseFont: EAUDDP+STIXGeneral FontSubset: true FirstChar: 174 LastChar: 174 FontDescriptor: FontName: EAUDDP+STIXGeneral Flags: Serif, Nonsymbolic FontBBox: -178, -443, 2000, 1023 FontFile3: true Encoding: WinAnsiEncoding ToUnicode: true Font: BaseFont: MinionProMTC-Italic FirstChar: 0 LastChar: 255 FontDescriptor: FontName: MinionProMTC-Italic Flags: Serif, Nonsymbolic FontBBox: -201, -360, 1684, 1002 FontFile3: true EncodingDictionary: BaseEncoding: WinAnsiEncoding Differences: true ToUnicode: true Font: BaseFont: HelveticaNeueLTStd-MdIt FirstChar: 0 LastChar: 255 FontDescriptor: FontName: HelveticaNeueLTStd-MdIt Flags: Nonsymbolic, Italic FontBBox: -165, -218, 1125, 947 FontFile3: true Encoding: WinAnsiEncoding ToUnicode: true Font: BaseFont: HelveticaNeueLTStd-Bd FirstChar: 0 LastChar: 255 FontDescriptor: FontName: HelveticaNeueLTStd-Bd Flags: Nonsymbolic FontBBox: -166, -387, 1078, 975 FontFile3: true EncodingDictionary: BaseEncoding: WinAnsiEncoding Differences: true ToUnicode: true Font: BaseFont: HelveticaNeueLTStd-Lt FirstChar: 0 LastChar: 255 FontDescriptor: FontName: HelveticaNeueLTStd-Lt Flags: Nonsymbolic FontBBox: -166, -295, 1050, 967 FontFile3: true EncodingDictionary: BaseEncoding: WinAnsiEncoding Differences: true ToUnicode: true Font: BaseFont: HelveticaNeueLTStd-BdIt FirstChar: 0 LastChar: 255 FontDescriptor: FontName: HelveticaNeueLTStd-BdIt Flags: Nonsymbolic FontBBox: -166, -393, 1129, 975 FontFile3: true Encoding: WinAnsiEncoding ToUnicode: true Font: BaseFont: HelveticaNeueLTStd-LtIt FirstChar: 0 LastChar: 255 FontDescriptor: FontName: HelveticaNeueLTStd-LtIt Flags: Nonsymbolic FontBBox: -165, -303, 1099, 951 FontFile3: true EncodingDictionary: BaseEncoding: WinAnsiEncoding Differences: true ToUnicode: true Font: BaseFont: HelveticaNeueLTStd-Md FirstChar: 0 LastChar: 255 FontDescriptor: FontName: HelveticaNeueLTStd-Md Flags: Nonsymbolic FontBBox: -165, -221, 1066, 952 FontFile3: true Encoding: WinAnsiEncoding ToUnicode: true XMP: application/pdf Haplotype Analysis of the First A4V-SOD1 Spanish Family: Two Separate Founders or a Single Common Founder? Cecilia Garcia Jose Manuel Vidal-Taboada Enrique Syriani Maria Salvado Miguel Morales Josep Gamez Despite the genetic heterogeneity reported in familial amyotrophic lateral sclerosis (ALS) (fALS), Cu/Zn superoxide-dismutase (SOD1) gene mutations are the second most common cause of the disease, accounting for around 20% of all families (ALS1) and isol SOD1 A4V p.A5V amyotrophic lateral sclerosis familial amyotrophic lateral sclerosis ALS1 founder effect 2019-11-08T02:56:12+08:00 2019-11-08T08:56:03+08:00 2019-11-08T08:56:03+08:00 Adobe InDesign CC 2015 (Windows) uuid:d0d4a6d8-f7fa-48f6-bd58-d745461619ec xmp.did:2aecd8bd-cbd3-4539-b083-9de383973cbe xmp.id:64218e8a-bbc7-f14d-a99a-7db227831d44 proof:pdf xmp.iid:473e0678-7b43-0749-aa22-771c4b127fca xmp.did:5ba2f25d-b602-6942-b1ab-d5df1ddaea97 xmp.did:2aecd8bd-cbd3-4539-b083-9de383973cbe default converted from application/x-indesign to application/pdf Adobe InDesign CC 2015 (Windows) / 2019-11-08T02:56:12+08:00 Adobe PDF Library 15.0 False 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