View in EDS HTML Full Text PDF Full Text

Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.

Saved in:
Bibliographic Details
Title: Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.
Authors: Ruhno C; Department of Biological Chemistry and Pharmacology, The Ohio State University, Columbus, OH, USA., McGovern VL; Department of Biological Chemistry and Pharmacology, The Ohio State University, Columbus, OH, USA., Avenarius MR; Nationwide Children's Hospital, Columbus, OH, USA., Snyder PJ; Department of Pathology, The Ohio State University, Columbus, OH, USA., Prior TW; Department of Pathology, Case Western Reserve Medical Center, Cleveland, OH, USA., Nery FC; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Muhtaseb A; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Roggenbuck JS; Department of Neurology, The Ohio State University, Columbus, OH, USA., Kissel JT; Department of Neurology, The Ohio State University, Columbus, OH, USA., Sansone VA; The NEMO Clinical Center, University of Milan, Milan, Italy., Siranosian JJ; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Johnstone AJ; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Nwe PH; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Zhang RZ; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Swoboda KJ; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Burghes AHM; Department of Biological Chemistry and Pharmacology, The Ohio State University, Columbus, OH, USA. burghes.1@osu.edu.
Source: Human genetics [Hum Genet] 2019 Mar; Vol. 138 (3), pp. 241-256. Date of Electronic Publication: 2019 Feb 20.
Publication Type: Journal Article
Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 30788592
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Ruhno+C%22">Ruhno C</searchLink>; Department of Biological Chemistry and Pharmacology, The Ohio State University, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22McGovern+VL%22">McGovern VL</searchLink>; Department of Biological Chemistry and Pharmacology, The Ohio State University, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22Avenarius+MR%22">Avenarius MR</searchLink>; Nationwide Children's Hospital, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22Snyder+PJ%22">Snyder PJ</searchLink>; Department of Pathology, The Ohio State University, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22Prior+TW%22">Prior TW</searchLink>; Department of Pathology, Case Western Reserve Medical Center, Cleveland, OH, USA.<br /><searchLink fieldCode="AU" term="%22Nery+FC%22">Nery FC</searchLink>; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Muhtaseb+A%22">Muhtaseb A</searchLink>; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Roggenbuck+JS%22">Roggenbuck JS</searchLink>; Department of Neurology, The Ohio State University, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22Kissel+JT%22">Kissel JT</searchLink>; Department of Neurology, The Ohio State University, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22Sansone+VA%22">Sansone VA</searchLink>; The NEMO Clinical Center, University of Milan, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Siranosian+JJ%22">Siranosian JJ</searchLink>; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Johnstone+AJ%22">Johnstone AJ</searchLink>; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Nwe+PH%22">Nwe PH</searchLink>; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Zhang+RZ%22">Zhang RZ</searchLink>; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Swoboda+KJ%22">Swoboda KJ</searchLink>; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Burghes+AHM%22">Burghes AHM</searchLink>; Department of Biological Chemistry and Pharmacology, The Ohio State University, Columbus, OH, USA. burghes.1@osu.edu.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%227613873%22">Human genetics</searchLink> [Hum Genet] 2019 Mar; Vol. 138 (3), pp. 241-256. <i>Date of Electronic Publication: </i>2019 Feb 20.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+Verlag%22">Springer Verlag </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>7613873 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1432-1203 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203406717%22">03406717 </searchLink><i>NLM ISO Abbreviation: </i>Hum Genet <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=30788592
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1007/s00439-019-01983-0
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 241
    Titles:
      – TitleFull: Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Ruhno C
      – PersonEntity:
          Name:
            NameFull: McGovern VL
      – PersonEntity:
          Name:
            NameFull: Avenarius MR
      – PersonEntity:
          Name:
            NameFull: Snyder PJ
      – PersonEntity:
          Name:
            NameFull: Prior TW
      – PersonEntity:
          Name:
            NameFull: Nery FC
      – PersonEntity:
          Name:
            NameFull: Muhtaseb A
      – PersonEntity:
          Name:
            NameFull: Roggenbuck JS
      – PersonEntity:
          Name:
            NameFull: Kissel JT
      – PersonEntity:
          Name:
            NameFull: Sansone VA
      – PersonEntity:
          Name:
            NameFull: Siranosian JJ
      – PersonEntity:
          Name:
            NameFull: Johnstone AJ
      – PersonEntity:
          Name:
            NameFull: Nwe PH
      – PersonEntity:
          Name:
            NameFull: Zhang RZ
      – PersonEntity:
          Name:
            NameFull: Swoboda KJ
      – PersonEntity:
          Name:
            NameFull: Burghes AHM
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 03
              Text: 2019 Mar
              Type: published
              Y: 2019
          Identifiers:
            – Type: issn-electronic
              Value: 1432-1203
          Numbering:
            – Type: volume
              Value: 138
            – Type: issue
              Value: 3
          Titles:
            – TitleFull: Human genetics
              Type: main
ResultId 1