NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study.

Saved in:
Bibliographic Details
Title: NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study.
Authors: Wei Wen1, Dan Yin2,3, Fangfang Huang1, Meng Guo1, Tian Tian2,3, Hui Zhu2,3, Yun Yang2,3,4 yangyun@genomics.cn
Source: BMC Medical Genetics. 2/3/2016, Vol. 17, p1-5. 5p.
Database: Academic Search Ultimate
FullText Links:
  – Type: pdflink
Text:
  Availability: 0
Header DbId: asn
DbLabel: Academic Search Ultimate
An: 112745926
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Wei+Wen%22">Wei Wen</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Dan+Yin%22">Dan Yin</searchLink><relatesTo>2,3</relatesTo><br /><searchLink fieldCode="AR" term="%22Fangfang+Huang%22">Fangfang Huang</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Meng+Guo%22">Meng Guo</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Tian+Tian%22">Tian Tian</searchLink><relatesTo>2,3</relatesTo><br /><searchLink fieldCode="AR" term="%22Hui+Zhu%22">Hui Zhu</searchLink><relatesTo>2,3</relatesTo><br /><searchLink fieldCode="AR" term="%22Yun+Yang%22">Yun Yang</searchLink><relatesTo>2,3,4</relatesTo><i> yangyun@genomics.cn</i>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22BMC+Medical+Genetics%22">BMC Medical Genetics</searchLink>. 2/3/2016, Vol. 17, p1-5. 5p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=112745926
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1186/s12881-016-0273-7
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 5
        StartPage: 1
    Titles:
      – TitleFull: NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Wei Wen
      – PersonEntity:
          Name:
            NameFull: Dan Yin
      – PersonEntity:
          Name:
            NameFull: Fangfang Huang
      – PersonEntity:
          Name:
            NameFull: Meng Guo
      – PersonEntity:
          Name:
            NameFull: Tian Tian
      – PersonEntity:
          Name:
            NameFull: Hui Zhu
      – PersonEntity:
          Name:
            NameFull: Yun Yang
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 03
              M: 02
              Text: 2/3/2016
              Type: published
              Y: 2016
          Identifiers:
            – Type: issn-print
              Value: 14712350
          Numbering:
            – Type: volume
              Value: 17
          Titles:
            – TitleFull: BMC Medical Genetics
              Type: main
ResultId 1