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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: Mon Jun 14 14:49:41 2021 CEST 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: 1761197 bytes Optimized: yes PDF version: 1.4 name type encoding emb sub uni object ID ------------------------------------ ----------------- ---------------- --- --- --- --------- HelveticaNeueLTStd-Bd Type 1C Custom yes no yes 1244 0 HelveticaNeueLTStd-BdIt Type 1C WinAnsi yes no yes 1245 0 HelveticaNeueLTStd-LtIt Type 1C Custom yes no yes 1246 0 HelveticaNeueLTStd-MdIt Type 1C WinAnsi yes no yes 1257 0 HelveticaNeueLTStd-Lt Type 1C Custom yes no yes 1258 0 MinionProMTC-Regular Type 1C Custom yes no yes 1265 0 MinionProMTC-Italic Type 1C Custom yes no yes 91 0 MinionPro-Bold Type 1C Custom yes no yes 97 0 HelveticaNeueLTStd-Md Type 1C WinAnsi yes no yes 101 0 EAUDDP+STIXGeneral Type 1C WinAnsi yes yes yes 103 0 EAUDDP+MinionPro-Regular Type 1C Custom yes yes yes 105 0 Jhove (Rel. 1.22.1, 2019-04-17) Date: 2021-06-15 02:39:45 CEST RepresentationInformation: pdf_223398.pdf ReportingModule: PDF-hul, Rel. 1.12.1 (2019-04-17) LastModified: 2021-06-14 14:50:26 CEST Size: 1761197 Format: PDF Version: 1.4 Status: Well-Formed, but not valid SignatureMatches: PDF-hul ErrorMessage: Annotation object is not a dictionary Offset: 4595 MIMEtype: application/pdf Profile: Linearized PDF PDFMetadata: Objects: 1347 FreeObjects: 1112 IncrementalUpdates: 1 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: Mon Jun 14 14:49:41 CEST 2021 ID: 0xf15e082a174f3e4d8c3e53e00b9f7bc3, 0x0899fd00ed5d2d41ac8c03b52a18f88c 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: HelveticaNeueLTStd-Md FirstChar: 0 LastChar: 255 FontDescriptor: FontName: HelveticaNeueLTStd-Md Flags: Nonsymbolic FontBBox: -165, -221, 1066, 952 FontFile3: true Encoding: WinAnsiEncoding 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: 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: 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: 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: 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-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-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 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 2021-06-14T14:49:41+02:00 2021-06-14T14:49:41+02:00 Adobe InDesign CC 2015 (Windows) uuid:a30da1b2-1362-4c1f-b1fb-8698262a7db8 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 SOD1, A4V, p.A5V, amyotrophic lateral sclerosis, familial amyotrophic lateral sclerosis, ALS1, founder effect Checksum: 6b785be2 Type: CRC32 Checksum: 994befaa7337891d813ea487245a1efd Type: MD5 Checksum: 27c59bb08eaa359ba9700a01bdf594b90535c250 Type: SHA-1