View in EDS HTML Full Text PDF Full Text

Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene.

Saved in:
Bibliographic Details
Title: Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene.
Authors: Pangilinan F; Genetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA., Watkins D; Department of Human Genetics, McGill University and Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada., Bernard D; Genetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA., Chen Y; Cyrus Tang Hematology Center, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Prevention, Soochow University, Suzhou, China., Dong N; Cyrus Tang Hematology Center, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Prevention, Soochow University, Suzhou, China.; MOH Key Laboratory of Thrombosis and Hemostasis, Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University, Suzhou, China., Wu Q; Cyrus Tang Hematology Center, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Prevention, Soochow University, Suzhou, China., Ozel-Abaan H; Genetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA., Kaur M; Genetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA., Caggana M; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, USA., Morrissey M; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, USA., Browne ML; Birth Defects Registry, New York State Department of Health, Albany, New York and University at Albany School of Public Health, Rensselaer, New York, USA., Mills JL; Epidemiology Branch, Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA., Van Ryzin C; Organic Acid Research Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA., Shchelochkov O; Organic Acid Research Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA., Sloan J; Organic Acid Research Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA., Venditti CP; Organic Acid Research Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA., Sarafoglou K; Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota, USA., Rosenblatt DS; Department of Human Genetics, McGill University and Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.; Division of Medical Biochemistry, Department of Specialized Medicine, McGill University Health Centre, Montreal, Quebec, Canada.; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, Quebec, Canada., Kay DM; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, USA., Brody LC; Genetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Apr; Vol. 188 (4), pp. 1124-1141. Date of Electronic Publication: 2022 Feb 02.
Publication Type: 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: 35107211
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Pangilinan+F%22">Pangilinan F</searchLink>; Genetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Watkins+D%22">Watkins D</searchLink>; Department of Human Genetics, McGill University and Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Bernard+D%22">Bernard D</searchLink>; Genetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Chen+Y%22">Chen Y</searchLink>; Cyrus Tang Hematology Center, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Prevention, Soochow University, Suzhou, China.<br /><searchLink fieldCode="AU" term="%22Dong+N%22">Dong N</searchLink>; Cyrus Tang Hematology Center, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Prevention, Soochow University, Suzhou, China.; MOH Key Laboratory of Thrombosis and Hemostasis, Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University, Suzhou, China.<br /><searchLink fieldCode="AU" term="%22Wu+Q%22">Wu Q</searchLink>; Cyrus Tang Hematology Center, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Prevention, Soochow University, Suzhou, China.<br /><searchLink fieldCode="AU" term="%22Ozel-Abaan+H%22">Ozel-Abaan H</searchLink>; Genetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Kaur+M%22">Kaur M</searchLink>; Genetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Caggana+M%22">Caggana M</searchLink>; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, USA.<br /><searchLink fieldCode="AU" term="%22Morrissey+M%22">Morrissey M</searchLink>; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, USA.<br /><searchLink fieldCode="AU" term="%22Browne+ML%22">Browne ML</searchLink>; Birth Defects Registry, New York State Department of Health, Albany, New York and University at Albany School of Public Health, Rensselaer, New York, USA.<br /><searchLink fieldCode="AU" term="%22Mills+JL%22">Mills JL</searchLink>; Epidemiology Branch, Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Van+Ryzin+C%22">Van Ryzin C</searchLink>; Organic Acid Research Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Shchelochkov+O%22">Shchelochkov O</searchLink>; Organic Acid Research Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Sloan+J%22">Sloan J</searchLink>; Organic Acid Research Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Venditti+CP%22">Venditti CP</searchLink>; Organic Acid Research Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Sarafoglou+K%22">Sarafoglou K</searchLink>; Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Rosenblatt+DS%22">Rosenblatt DS</searchLink>; Department of Human Genetics, McGill University and Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.; Division of Medical Biochemistry, Department of Specialized Medicine, McGill University Health Centre, Montreal, Quebec, Canada.; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Kay+DM%22">Kay DM</searchLink>; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, USA.<br /><searchLink fieldCode="AU" term="%22Brody+LC%22">Brody LC</searchLink>; Genetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA.
– 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] 2022 Apr; Vol. 188 (4), pp. 1124-1141. <i>Date of Electronic Publication: </i>2022 Feb 02.
– 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-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=35107211
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1002/ajmg.a.62627
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 1124
    Titles:
      – TitleFull: Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Pangilinan F
      – PersonEntity:
          Name:
            NameFull: Watkins D
      – PersonEntity:
          Name:
            NameFull: Bernard D
      – PersonEntity:
          Name:
            NameFull: Chen Y
      – PersonEntity:
          Name:
            NameFull: Dong N
      – PersonEntity:
          Name:
            NameFull: Wu Q
      – PersonEntity:
          Name:
            NameFull: Ozel-Abaan H
      – PersonEntity:
          Name:
            NameFull: Kaur M
      – PersonEntity:
          Name:
            NameFull: Caggana M
      – PersonEntity:
          Name:
            NameFull: Morrissey M
      – PersonEntity:
          Name:
            NameFull: Browne ML
      – PersonEntity:
          Name:
            NameFull: Mills JL
      – PersonEntity:
          Name:
            NameFull: Van Ryzin C
      – PersonEntity:
          Name:
            NameFull: Shchelochkov O
      – PersonEntity:
          Name:
            NameFull: Sloan J
      – PersonEntity:
          Name:
            NameFull: Venditti CP
      – PersonEntity:
          Name:
            NameFull: Sarafoglou K
      – PersonEntity:
          Name:
            NameFull: Rosenblatt DS
      – PersonEntity:
          Name:
            NameFull: Kay DM
      – PersonEntity:
          Name:
            NameFull: Brody LC
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 04
              Text: 2022 Apr
              Type: published
              Y: 2022
          Identifiers:
            – Type: issn-electronic
              Value: 1552-4833
          Numbering:
            – Type: volume
              Value: 188
            – Type: issue
              Value: 4
          Titles:
            – TitleFull: American journal of medical genetics. Part A
              Type: main
ResultId 1