View in EDS HTML Full Text PDF Full Text

Identification of pathogenic deep intronic variant and exonic LINE‐1 insertion in a patient with Meckel syndrome.

Saved in:
Bibliographic Details
Title: Identification of pathogenic deep intronic variant and exonic LINE‐1 insertion in a patient with Meckel syndrome.
Authors: Miyamoto, Sachiko1 (AUTHOR), Nakamura, Kazuyuki2 (AUTHOR), Kato, Mitsuhiro3 (AUTHOR), Nakashima, Mitsuko1 (AUTHOR), Saitsu, Hirotomo1 (AUTHOR) hsaitsu@hama-med.ac.jp
Source: Annals of Human Genetics. Jul2023, Vol. 87 Issue 4, p196-202. 7p.
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: 164420993
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Identification of pathogenic deep intronic variant and exonic LINE‐1 insertion in a patient with Meckel syndrome.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Miyamoto%2C+Sachiko%22">Miyamoto, Sachiko</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Nakamura%2C+Kazuyuki%22">Nakamura, Kazuyuki</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kato%2C+Mitsuhiro%22">Kato, Mitsuhiro</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Nakashima%2C+Mitsuko%22">Nakashima, Mitsuko</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Saitsu%2C+Hirotomo%22">Saitsu, Hirotomo</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> hsaitsu@hama-med.ac.jp</i>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22Annals+of+Human+Genetics%22">Annals of Human Genetics</searchLink>. Jul2023, Vol. 87 Issue 4, p196-202. 7p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=164420993
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1111/ahg.12507
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 7
        StartPage: 196
    Titles:
      – TitleFull: Identification of pathogenic deep intronic variant and exonic LINE‐1 insertion in a patient with Meckel syndrome.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Miyamoto, Sachiko
      – PersonEntity:
          Name:
            NameFull: Nakamura, Kazuyuki
      – PersonEntity:
          Name:
            NameFull: Kato, Mitsuhiro
      – PersonEntity:
          Name:
            NameFull: Nakashima, Mitsuko
      – PersonEntity:
          Name:
            NameFull: Saitsu, Hirotomo
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 07
              Text: Jul2023
              Type: published
              Y: 2023
          Identifiers:
            – Type: issn-print
              Value: 00034800
          Numbering:
            – Type: volume
              Value: 87
            – Type: issue
              Value: 4
          Titles:
            – TitleFull: Annals of Human Genetics
              Type: main
ResultId 1