View in EDS HTML Full Text PDF Full Text

A case of inherited glycosylphosphatidylinositol deficiency caused by PGAP3 variant with uniparental isodisomy on chromosome 17.

Saved in:
Bibliographic Details
Title: A case of inherited glycosylphosphatidylinositol deficiency caused by PGAP3 variant with uniparental isodisomy on chromosome 17.
Authors: Mukai, Takeo1 (AUTHOR) takeo‐m@ims.u‐tokyo.ac.jp, Kato, Shota1 (AUTHOR), Tanaka, Hiroyuki1 (AUTHOR), Kuroda, Yukiko1 (AUTHOR), Kitaoka, Hiroki1 (AUTHOR), Ito, Atsushi1 (AUTHOR), Shitara, Yoshihiko1 (AUTHOR), Kashima, Kohei1 (AUTHOR), Takami, Hirokazu2 (AUTHOR), Takahashi, Naoto1 (AUTHOR), Kato, Motohiro1 (AUTHOR)
Source: Molecular Genetics & Genomic Medicine. Jul2024, Vol. 12 Issue 7, p1-6. 6p.
Database: Academic Search Ultimate
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: asn
DbLabel: Academic Search Ultimate
An: 178647449
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: A case of inherited glycosylphosphatidylinositol deficiency caused by PGAP3 variant with uniparental isodisomy on chromosome 17.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Mukai%2C+Takeo%22">Mukai, Takeo</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> takeo‐m@ims.u‐tokyo.ac.jp</i><br /><searchLink fieldCode="AR" term="%22Kato%2C+Shota%22">Kato, Shota</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Tanaka%2C+Hiroyuki%22">Tanaka, Hiroyuki</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kuroda%2C+Yukiko%22">Kuroda, Yukiko</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kitaoka%2C+Hiroki%22">Kitaoka, Hiroki</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ito%2C+Atsushi%22">Ito, Atsushi</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Shitara%2C+Yoshihiko%22">Shitara, Yoshihiko</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kashima%2C+Kohei%22">Kashima, Kohei</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Takami%2C+Hirokazu%22">Takami, Hirokazu</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Takahashi%2C+Naoto%22">Takahashi, Naoto</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kato%2C+Motohiro%22">Kato, Motohiro</searchLink><relatesTo>1</relatesTo> (AUTHOR)
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22Molecular+Genetics+%26+Genomic+Medicine%22">Molecular Genetics & Genomic Medicine</searchLink>. Jul2024, Vol. 12 Issue 7, p1-6. 6p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=178647449
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1002/mgg3.2452
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 6
        StartPage: 1
    Titles:
      – TitleFull: A case of inherited glycosylphosphatidylinositol deficiency caused by PGAP3 variant with uniparental isodisomy on chromosome 17.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Mukai, Takeo
      – PersonEntity:
          Name:
            NameFull: Kato, Shota
      – PersonEntity:
          Name:
            NameFull: Tanaka, Hiroyuki
      – PersonEntity:
          Name:
            NameFull: Kuroda, Yukiko
      – PersonEntity:
          Name:
            NameFull: Kitaoka, Hiroki
      – PersonEntity:
          Name:
            NameFull: Ito, Atsushi
      – PersonEntity:
          Name:
            NameFull: Shitara, Yoshihiko
      – PersonEntity:
          Name:
            NameFull: Kashima, Kohei
      – PersonEntity:
          Name:
            NameFull: Takami, Hirokazu
      – PersonEntity:
          Name:
            NameFull: Takahashi, Naoto
      – PersonEntity:
          Name:
            NameFull: Kato, Motohiro
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 07
              Text: Jul2024
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-print
              Value: 23249269
          Numbering:
            – Type: volume
              Value: 12
            – Type: issue
              Value: 7
          Titles:
            – TitleFull: Molecular Genetics & Genomic Medicine
              Type: main
ResultId 1