View in EDS HTML Full Text PDF Full Text

Clinical SMN1 and SMN2 Gene-Specific Sequencing to Enhance the Clinical Sensitivity of Spinal Muscular Atrophy Diagnostic Testing.

Saved in:
Bibliographic Details
Title: Clinical SMN1 and SMN2 Gene-Specific Sequencing to Enhance the Clinical Sensitivity of Spinal Muscular Atrophy Diagnostic Testing.
Authors: Miller CR; The Ohio State University Wexner Medical Center, Department of Pathology, 6100 Optometry Clinic & Health Science Faculty Office Building, 1664 Neil Avenue, Columbus, OH 43210, USA.; The Ohio State University James Comprehensive Cancer Center Molecular Pathology Laboratory, 2001 Polaris Parkway, Columbus, OH 43240, USA., Fang J; The Ohio State University James Comprehensive Cancer Center Molecular Pathology Laboratory, 2001 Polaris Parkway, Columbus, OH 43240, USA., Snyder P; The Ohio State University James Comprehensive Cancer Center Molecular Pathology Laboratory, 2001 Polaris Parkway, Columbus, OH 43240, USA., Long SE; The Ohio State University James Comprehensive Cancer Center Molecular Pathology Laboratory, 2001 Polaris Parkway, Columbus, OH 43240, USA., Prior TW; Case Western Reserve, Department of Pathology, 10900 Euclid Avenue, Cleveland, OH 44106, USA., Jones D; The Ohio State University Wexner Medical Center, Department of Pathology, 6100 Optometry Clinic & Health Science Faculty Office Building, 1664 Neil Avenue, Columbus, OH 43210, USA.; The Ohio State University James Comprehensive Cancer Center Molecular Pathology Laboratory, 2001 Polaris Parkway, Columbus, OH 43240, USA., Avenarius MR; The Ohio State University Wexner Medical Center, Department of Pathology, 6100 Optometry Clinic & Health Science Faculty Office Building, 1664 Neil Avenue, Columbus, OH 43210, USA.; The Ohio State University James Comprehensive Cancer Center Molecular Pathology Laboratory, 2001 Polaris Parkway, Columbus, OH 43240, USA.
Source: Human mutation [Hum Mutat] 2023 Oct 19; Vol. 2023, pp. 6436853. Date of Electronic Publication: 2023 Oct 19 (Print Publication: 2023).
Publication Type: Journal Article
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat 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: 40225149
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Clinical SMN1 and SMN2 Gene-Specific Sequencing to Enhance the Clinical Sensitivity of Spinal Muscular Atrophy Diagnostic Testing.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Miller+CR%22">Miller CR</searchLink>; The Ohio State University Wexner Medical Center, Department of Pathology, 6100 Optometry Clinic & Health Science Faculty Office Building, 1664 Neil Avenue, Columbus, OH 43210, USA.; The Ohio State University James Comprehensive Cancer Center Molecular Pathology Laboratory, 2001 Polaris Parkway, Columbus, OH 43240, USA.<br /><searchLink fieldCode="AU" term="%22Fang+J%22">Fang J</searchLink>; The Ohio State University James Comprehensive Cancer Center Molecular Pathology Laboratory, 2001 Polaris Parkway, Columbus, OH 43240, USA.<br /><searchLink fieldCode="AU" term="%22Snyder+P%22">Snyder P</searchLink>; The Ohio State University James Comprehensive Cancer Center Molecular Pathology Laboratory, 2001 Polaris Parkway, Columbus, OH 43240, USA.<br /><searchLink fieldCode="AU" term="%22Long+SE%22">Long SE</searchLink>; The Ohio State University James Comprehensive Cancer Center Molecular Pathology Laboratory, 2001 Polaris Parkway, Columbus, OH 43240, USA.<br /><searchLink fieldCode="AU" term="%22Prior+TW%22">Prior TW</searchLink>; Case Western Reserve, Department of Pathology, 10900 Euclid Avenue, Cleveland, OH 44106, USA.<br /><searchLink fieldCode="AU" term="%22Jones+D%22">Jones D</searchLink>; The Ohio State University Wexner Medical Center, Department of Pathology, 6100 Optometry Clinic & Health Science Faculty Office Building, 1664 Neil Avenue, Columbus, OH 43210, USA.; The Ohio State University James Comprehensive Cancer Center Molecular Pathology Laboratory, 2001 Polaris Parkway, Columbus, OH 43240, USA.<br /><searchLink fieldCode="AU" term="%22Avenarius+MR%22">Avenarius MR</searchLink>; The Ohio State University Wexner Medical Center, Department of Pathology, 6100 Optometry Clinic & Health Science Faculty Office Building, 1664 Neil Avenue, Columbus, OH 43210, USA.; The Ohio State University James Comprehensive Cancer Center Molecular Pathology Laboratory, 2001 Polaris Parkway, Columbus, OH 43240, USA.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2023 Oct 19; Vol. 2023, pp. 6436853. <i>Date of Electronic Publication: </i>2023 Oct 19 (<i>Print Publication: </i>2023).
– 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="%22Wiley-Liss%22">Wiley-Liss </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9215429 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>1098-1004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210597794%22">10597794 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mutat <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40225149
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1155/2023/6436853
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 6436853
    Titles:
      – TitleFull: Clinical SMN1 and SMN2 Gene-Specific Sequencing to Enhance the Clinical Sensitivity of Spinal Muscular Atrophy Diagnostic Testing.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Miller CR
      – PersonEntity:
          Name:
            NameFull: Fang J
      – PersonEntity:
          Name:
            NameFull: Snyder P
      – PersonEntity:
          Name:
            NameFull: Long SE
      – PersonEntity:
          Name:
            NameFull: Prior TW
      – PersonEntity:
          Name:
            NameFull: Jones D
      – PersonEntity:
          Name:
            NameFull: Avenarius MR
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 19
              M: 10
              Text: 2023 Oct 19
              Type: published
              Y: 2023
          Identifiers:
            – Type: issn-electronic
              Value: 1098-1004
          Numbering:
            – Type: volume
              Value: 2023
          Titles:
            – TitleFull: Human mutation
              Type: main
ResultId 1