View in EDS

Characterizing SMN1 hybrid and deletion alleles using large-scale SNP array-based SMA carrier screening.

Saved in:
Bibliographic Details
Title: Characterizing SMN1 hybrid and deletion alleles using large-scale SNP array-based SMA carrier screening.
Authors: Vidal-Folch N; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN, USA., Stout C; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN, USA., Winters J; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN, USA., Oglesbee D; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN, USA., Hasadsri L; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN, USA. hasadsri.linda@mayo.edu., Cook SL; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN, USA. cook.sara@mayo.edu.
Source: BMC medical genomics [BMC Med Genomics] 2026 Jun 06. Date of Electronic Publication: 2026 Jun 06.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 42251298
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Characterizing SMN1 hybrid and deletion alleles using large-scale SNP array-based SMA carrier screening.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Vidal-Folch+N%22">Vidal-Folch N</searchLink>; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Stout+C%22">Stout C</searchLink>; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Winters+J%22">Winters J</searchLink>; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Oglesbee+D%22">Oglesbee D</searchLink>; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Hasadsri+L%22">Hasadsri L</searchLink>; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN, USA. hasadsri.linda@mayo.edu.<br /><searchLink fieldCode="AU" term="%22Cook+SL%22">Cook SL</searchLink>; Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN, USA. cook.sara@mayo.edu.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101319628%22">BMC medical genomics</searchLink> [BMC Med Genomics] 2026 Jun 06. <i>Date of Electronic Publication: </i>2026 Jun 06.
– 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="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101319628 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1755-8794 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217558794%22">17558794 </searchLink><i>NLM ISO Abbreviation: </i>BMC Med Genomics <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=42251298
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1186/s12920-026-02406-6
    Languages:
      – Code: eng
        Text: English
    Titles:
      – TitleFull: Characterizing SMN1 hybrid and deletion alleles using large-scale SNP array-based SMA carrier screening.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Vidal-Folch N
      – PersonEntity:
          Name:
            NameFull: Stout C
      – PersonEntity:
          Name:
            NameFull: Winters J
      – PersonEntity:
          Name:
            NameFull: Oglesbee D
      – PersonEntity:
          Name:
            NameFull: Hasadsri L
      – PersonEntity:
          Name:
            NameFull: Cook SL
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 06
              M: 06
              Text: 2026 Jun 06
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1755-8794
          Titles:
            – TitleFull: BMC medical genomics
              Type: main
ResultId 1