View in EDS HTML Full Text PDF Full Text

Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome.

Saved in:
Bibliographic Details
Title: Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome.
Authors: Halperin D; Faculty of Health Sciences, The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Drabkin M; Faculty of Health Sciences, The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Wormser O; Faculty of Health Sciences, The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Yogev Y; Faculty of Health Sciences, The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Dolgin V; Faculty of Health Sciences, The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Shorer Z; Pediatric Neurology Unit, Division of Pediatrics, Soroka University Medical Center, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Gradstein L; Department of Ophthalmology, Soroka University Medical Center and Clalit Health Services, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Shelef I; Faculty of Health Sciences, Department of Imaging, Soroka University Medical Center, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Flusser H; Zusman Child Development Center, Division of Pediatrics, Soroka University Medical Center, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Birk OS; Faculty of Health Sciences, The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva, Israel.; Genetics Institute, Soroka University Medical Center, Beer-Sheva, Israel.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Jun; Vol. 182 (6), pp. 1506-1512. Date of Electronic Publication: 2020 Mar 31.
Publication Type: Case Reports; Research Support, Non-U.S. Gov't; Journal Article
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A 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: 32232962
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Halperin+D%22">Halperin D</searchLink>; Faculty of Health Sciences, The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Drabkin+M%22">Drabkin M</searchLink>; Faculty of Health Sciences, The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Wormser+O%22">Wormser O</searchLink>; Faculty of Health Sciences, The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Yogev+Y%22">Yogev Y</searchLink>; Faculty of Health Sciences, The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Dolgin+V%22">Dolgin V</searchLink>; Faculty of Health Sciences, The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Shorer+Z%22">Shorer Z</searchLink>; Pediatric Neurology Unit, Division of Pediatrics, Soroka University Medical Center, Ben-Gurion University of the Negev, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Gradstein+L%22">Gradstein L</searchLink>; Department of Ophthalmology, Soroka University Medical Center and Clalit Health Services, Ben-Gurion University of the Negev, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Shelef+I%22">Shelef I</searchLink>; Faculty of Health Sciences, Department of Imaging, Soroka University Medical Center, Ben-Gurion University of the Negev, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Flusser+H%22">Flusser H</searchLink>; Zusman Child Development Center, Division of Pediatrics, Soroka University Medical Center, Ben-Gurion University of the Negev, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Birk+OS%22">Birk OS</searchLink>; Faculty of Health Sciences, The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva, Israel.; Genetics Institute, Soroka University Medical Center, Beer-Sheva, Israel.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2020 Jun; Vol. 182 (6), pp. 1506-1512. <i>Date of Electronic Publication: </i>2020 Mar 31.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Case Reports; Research Support, Non-U.S. Gov't; Journal Article
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=32232962
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1002/ajmg.a.61577
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 1506
    Titles:
      – TitleFull: Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Halperin D
      – PersonEntity:
          Name:
            NameFull: Drabkin M
      – PersonEntity:
          Name:
            NameFull: Wormser O
      – PersonEntity:
          Name:
            NameFull: Yogev Y
      – PersonEntity:
          Name:
            NameFull: Dolgin V
      – PersonEntity:
          Name:
            NameFull: Shorer Z
      – PersonEntity:
          Name:
            NameFull: Gradstein L
      – PersonEntity:
          Name:
            NameFull: Shelef I
      – PersonEntity:
          Name:
            NameFull: Flusser H
      – PersonEntity:
          Name:
            NameFull: Birk OS
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 06
              Text: 2020 Jun
              Type: published
              Y: 2020
          Identifiers:
            – Type: issn-electronic
              Value: 1552-4833
          Numbering:
            – Type: volume
              Value: 182
            – Type: issue
              Value: 6
          Titles:
            – TitleFull: American journal of medical genetics. Part A
              Type: main
ResultId 1