Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8.

Saved in:
Bibliographic Details
Title: Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8.
Authors: Yuan, Haiming1,2 (AUTHOR), Wang, Qingming1,2 (AUTHOR), Zeng, Xiumei1 (AUTHOR), He, Peiqing1,2 (AUTHOR), Xu, Wanfang1 (AUTHOR), Guo, Hongmei1 (AUTHOR), Liu, Yanhui1,2 (AUTHOR) yh523120@sina.com, Lin, Yangyang1 (AUTHOR) Doctoral523120@sina.com
Source: Orphanet Journal of Rare Diseases. 4/4/2022, Vol. 17 Issue 1, p1-7. 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: 156106097
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Yuan%2C+Haiming%22">Yuan, Haiming</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Wang%2C+Qingming%22">Wang, Qingming</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Zeng%2C+Xiumei%22">Zeng, Xiumei</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22He%2C+Peiqing%22">He, Peiqing</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Xu%2C+Wanfang%22">Xu, Wanfang</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Guo%2C+Hongmei%22">Guo, Hongmei</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Liu%2C+Yanhui%22">Liu, Yanhui</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<i> yh523120@sina.com</i><br /><searchLink fieldCode="AR" term="%22Lin%2C+Yangyang%22">Lin, Yangyang</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> Doctoral523120@sina.com</i>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22Orphanet+Journal+of+Rare+Diseases%22">Orphanet Journal of Rare Diseases</searchLink>. 4/4/2022, Vol. 17 Issue 1, p1-7. 7p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=156106097
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1186/s13023-022-02306-9
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 7
        StartPage: 1
    Titles:
      – TitleFull: Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Yuan, Haiming
      – PersonEntity:
          Name:
            NameFull: Wang, Qingming
      – PersonEntity:
          Name:
            NameFull: Zeng, Xiumei
      – PersonEntity:
          Name:
            NameFull: He, Peiqing
      – PersonEntity:
          Name:
            NameFull: Xu, Wanfang
      – PersonEntity:
          Name:
            NameFull: Guo, Hongmei
      – PersonEntity:
          Name:
            NameFull: Liu, Yanhui
      – PersonEntity:
          Name:
            NameFull: Lin, Yangyang
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 04
              M: 04
              Text: 4/4/2022
              Type: published
              Y: 2022
          Identifiers:
            – Type: issn-print
              Value: 17501172
          Numbering:
            – Type: volume
              Value: 17
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Orphanet Journal of Rare Diseases
              Type: main
ResultId 1